ClinVar Miner

List of variants in gene FREM1 studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 565
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HGVS dbSNP gnomAD frequency
NM_001379081.2(FREM1):c.829-177A>G rs903312 0.98167
NM_001379081.2(FREM1):c.5334+45T>C rs7045154 0.97488
NM_001379081.2(FREM1):c.4791T>C (p.Asp1597=) rs1032474 0.85601
NM_001379081.2(FREM1):c.1153-121T>C rs1021493 0.83976
NM_001379081.2(FREM1):c.1262-33G>C rs2642404 0.83411
NM_001379081.2(FREM1):c.1153-144A>T rs1021494 0.78022
NM_001379081.2(FREM1):c.6341-23T>C rs10961690 0.74382
NM_001379081.2(FREM1):c.6428A>C (p.Gln2143Pro) rs10961689 0.74114
NM_001379081.2(FREM1):c.6341-150G>T rs10511596 0.74082
NM_001379081.2(FREM1):c.829-12A>G rs2818940 0.72914
NM_001379081.2(FREM1):c.829-98C>T rs729492 0.64369
NM_001379081.2(FREM1):c.2079-173T>C rs1332805 0.59072
NM_001379081.2(FREM1):c.1315G>C (p.Val439Leu) rs2779500 0.56393
NM_001379081.2(FREM1):c.6255-68T>C rs2270528 0.55624
NM_001379081.2(FREM1):c.234+89T>A rs7856810 0.52414
NM_001379081.2(FREM1):c.4785C>T (p.Ala1595=) rs10733289 0.50486
NM_001379081.2(FREM1):c.5335-39T>C rs10810233 0.43237
NM_001379081.2(FREM1):c.5004C>A (p.Ile1668=) rs17219005 0.34768
NM_001379081.2(FREM1):c.6009+105T>G rs2270530 0.33860
NM_001379081.2(FREM1):c.6010-84A>G rs2270529 0.33173
NM_001379081.2(FREM1):c.4178-146A>C rs10810240 0.32793
NM_001379081.2(FREM1):c.4857+58T>C rs1973389 0.32206
NM_001379081.2(FREM1):c.5059+23C>T rs1874109 0.30525
NM_001379081.2(FREM1):c.4178-33T>C rs10810239 0.28226
NM_001379081.2(FREM1):c.3634G>T (p.Ala1212Ser) rs35870000 0.27977
NM_001379081.2(FREM1):c.4442+117A>G rs10435762 0.22699
NM_001379081.2(FREM1):c.2894-193G>A rs10810251 0.21917
NM_001379081.2(FREM1):c.2547-173G>A rs12376167 0.21116
NM_001379081.2(FREM1):c.1882-152C>T rs13289400 0.21022
NM_001379081.2(FREM1):c.4857+8T>C rs1874108 0.19884
NM_001379081.2(FREM1):c.2408C>A (p.Ser803Tyr) rs7023244 0.19696
NM_001379081.2(FREM1):c.3089-4G>T rs10810249 0.18577
NM_001379081.2(FREM1):c.456A>G (p.Gln152=) rs10961757 0.17917
NM_001379081.2(FREM1):c.3657A>G (p.Ala1219=) rs10738380 0.17766
NM_001379081.2(FREM1):c.3606C>G (p.Ser1202Arg) rs16932300 0.15197
NM_001379081.2(FREM1):c.4617G>A (p.Ala1539=) rs2131880 0.14595
NM_001379081.2(FREM1):c.5859T>C (p.Val1953=) rs4741426 0.14468
NM_001379081.2(FREM1):c.2073C>T (p.Ser691=) rs12236053 0.13982
NM_001379081.2(FREM1):c.4858-21A>G rs7860370 0.13363
NM_001379081.2(FREM1):c.2587C>G (p.Leu863Val) rs7041710 0.12780
NM_001379081.2(FREM1):c.5059+82C>T rs17218977 0.11848
NM_001379081.2(FREM1):c.4177+31A>G rs16932282 0.11735
NM_001379081.2(FREM1):c.4504G>A (p.Val1502Met) rs10961700 0.11621
NM_001379081.2(FREM1):c.6138+75C>T rs17290109 0.10747
NM_001379081.2(FREM1):c.3089-58C>T rs12683064 0.09500
NM_001379081.2(FREM1):c.639A>G (p.Arg213=) rs950739 0.09339
NM_001379081.2(FREM1):c.1739-46T>C rs10511598 0.08631
NM_001379081.2(FREM1):c.1495A>G (p.Ile499Val) rs1353223 0.08593
NM_001379081.2(FREM1):c.1394-227T>C rs80194188 0.08577
NM_001379081.2(FREM1):c.1738+47A>G rs41305315 0.08166
NM_001379081.2(FREM1):c.828+33G>C rs950738 0.07986
NM_001379081.2(FREM1):c.6254+90A>C rs4124592 0.06608
NM_001379081.2(FREM1):c.3471+11T>C rs72614223 0.06395
NM_001379081.2(FREM1):c.4442+163A>G rs41265302 0.06344
NM_001379081.2(FREM1):c.4442+56G>A rs41265304 0.06340
NM_001379081.2(FREM1):c.4421C>T (p.Thr1474Ile) rs41265306 0.06329
NM_001379081.2(FREM1):c.3819T>A (p.Asp1273Glu) rs7025814 0.06135
NM_001379081.2(FREM1):c.-204T>G rs7860346 0.05324
NM_001379081.2(FREM1):c.-9C>G rs76002580 0.05065
NM_001379081.2(FREM1):c.2169+109A>G rs7861952 0.04322
NM_001379081.2(FREM1):c.2277T>C (p.Gly759=) rs16932323 0.03898
NM_001379081.2(FREM1):c.2170-82A>G rs75561279 0.03825
NM_001379081.2(FREM1):c.*148A>G rs11999446 0.03677
NM_001379081.2(FREM1):c.2104A>G (p.Met702Val) rs7864984 0.03461
NM_001379081.2(FREM1):c.2170-99G>A rs112853123 0.03400
NM_001379081.2(FREM1):c.2640+91A>C rs7854676 0.03193
NM_001379081.2(FREM1):c.3472-220G>T rs41314221 0.03019
NM_001379081.2(FREM1):c.273T>C (p.Tyr91=) rs61740262 0.02932
NM_001379081.2(FREM1):c.1262-61T>C rs12345622 0.02731
NM_001379081.2(FREM1):c.3048G>A (p.Thr1016=) rs61732546 0.02603
NM_001379081.2(FREM1):c.840G>A (p.Ala280=) rs41313784 0.02530
NM_001379081.2(FREM1):c.2640+64A>G rs116216987 0.02337
NM_001379081.2(FREM1):c.5796+226T>C rs77463824 0.02276
NM_001379081.2(FREM1):c.5205-41A>G rs78519283 0.02176
NM_001379081.2(FREM1):c.3839+196C>T rs7025870 0.02045
NM_001379081.2(FREM1):c.6340+86T>C rs16932241 0.01886
NM_001379081.2(FREM1):c.6255-4T>G rs75897613 0.01885
NM_001379081.2(FREM1):c.6255-124A>T rs75255636 0.01878
NM_001379081.2(FREM1):c.6255-119_6255-118insC rs200016257 0.01876
NM_001379081.2(FREM1):c.3708G>A (p.Thr1236=) rs61747541 0.01749
NM_001379081.2(FREM1):c.234+204T>C rs77972546 0.01673
NM_001379081.2(FREM1):c.1512C>T (p.His504=) rs61735720 0.01644
NM_001379081.2(FREM1):c.4466G>A (p.Arg1489Gln) rs61732355 0.01493
NM_001379081.2(FREM1):c.2358A>G (p.Lys786=) rs61745880 0.01483
NM_001379081.2(FREM1):c.5814T>A (p.Val1938=) rs114909107 0.01236
NM_001379081.2(FREM1):c.3472-20T>C rs77508679 0.01216
NM_001379081.2(FREM1):c.1791T>C (p.Tyr597=) rs115032700 0.01114
NM_001379081.2(FREM1):c.1047G>A (p.Leu349=) rs115701214 0.00859
NM_001379081.2(FREM1):c.4727A>T (p.Asn1576Ile) rs2101770 0.00620
NM_001379081.2(FREM1):c.5466T>C (p.Asp1822=) rs61741992 0.00569
NM_001379081.2(FREM1):c.5407+45T>G rs78753998 0.00567
NM_001379081.2(FREM1):c.3575G>A (p.Arg1192His) rs79023327 0.00551
NM_001379081.2(FREM1):c.45G>T (p.Leu15=) rs61747529 0.00547
NM_001379081.2(FREM1):c.3478G>A (p.Glu1160Lys) rs145337987 0.00502
NM_001379081.2(FREM1):c.2274C>A (p.Gly758=) rs12235714 0.00497
NM_001379081.2(FREM1):c.635T>G (p.Leu212Arg) rs145369669 0.00451
NM_001379081.2(FREM1):c.1884G>A (p.Val628=) rs140144319 0.00405
NM_001379081.2(FREM1):c.5329A>G (p.Ile1777Val) rs73644847 0.00380
NM_001379081.2(FREM1):c.4377T>C (p.Asp1459=) rs148327330 0.00362
NM_001379081.2(FREM1):c.4963G>A (p.Val1655Met) rs114410606 0.00315
NM_001379081.2(FREM1):c.5212C>A (p.Leu1738Met) rs138267253 0.00314
NM_001379081.2(FREM1):c.6528C>T (p.Ser2176=) rs144454947 0.00247
NM_001379081.2(FREM1):c.4711G>A (p.Asp1571Asn) rs115421185 0.00244
NM_001379081.2(FREM1):c.4564G>A (p.Val1522Met) rs61735747 0.00226
NM_001379081.2(FREM1):c.3485A>G (p.Gln1162Arg) rs113555227 0.00160
NM_001379081.2(FREM1):c.2337+19A>G rs201898982 0.00158
NM_001379081.2(FREM1):c.1464C>T (p.Ser488=) rs200064797 0.00155
NM_001379081.2(FREM1):c.5205-14C>T rs77061232 0.00153
NM_001379081.2(FREM1):c.795C>A (p.Asp265Glu) rs140222993 0.00128
NM_001379081.2(FREM1):c.1184A>C (p.Glu395Ala) rs150070740 0.00126
NM_001379081.2(FREM1):c.4442+3G>A rs181859461 0.00119
NM_001379081.2(FREM1):c.6258C>T (p.Tyr2086=) rs187325866 0.00119
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=) rs200894045 0.00092
NM_001379081.2(FREM1):c.1520G>A (p.Arg507His) rs202115210 0.00089
NM_001379081.2(FREM1):c.5049C>T (p.Asn1683=) rs200063334 0.00089
NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys) rs61745612 0.00087
NM_001379081.2(FREM1):c.3146C>G (p.Ser1049Cys) rs199961802 0.00085
NM_001379081.2(FREM1):c.3874C>T (p.Arg1292Cys) rs199806592 0.00078
NM_001379081.2(FREM1):c.3331C>T (p.His1111Tyr) rs200339767 0.00068
NM_001379081.2(FREM1):c.3359A>T (p.Gln1120Leu) rs143844459 0.00068
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser) rs76714828 0.00064
NM_001379081.2(FREM1):c.4867T>C (p.Leu1623=) rs369101934 0.00064
NM_001379081.2(FREM1):c.5123T>C (p.Ile1708Thr) rs200472299 0.00055
NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp) rs200482899 0.00052
NM_001379081.2(FREM1):c.2169+11A>C rs377670533 0.00051
NM_001379081.2(FREM1):c.5448C>T (p.Asp1816=) rs374311778 0.00050
NM_001379081.2(FREM1):c.4995C>T (p.Asp1665=) rs372941168 0.00049
NM_001379081.2(FREM1):c.4023C>G (p.Cys1341Trp) rs200716268 0.00041
NM_001379081.2(FREM1):c.6465A>G (p.Gln2155=) rs368790874 0.00039
NM_001379081.2(FREM1):c.4499A>T (p.Glu1500Val) rs281875280 0.00038
NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe) rs377466529 0.00035
NM_001379081.2(FREM1):c.4875A>C (p.Lys1625Asn) rs117881664 0.00033
NM_001379081.2(FREM1):c.6279A>G (p.Val2093=) rs373107801 0.00033
NM_001379081.2(FREM1):c.5854A>T (p.Ile1952Leu) rs201002953 0.00031
NM_001379081.2(FREM1):c.4945A>G (p.Ile1649Val) rs199891537 0.00030
NM_001379081.2(FREM1):c.6021C>G (p.Pro2007=) rs200987019 0.00030
NM_001379081.2(FREM1):c.4859T>C (p.Val1620Ala) rs190763692 0.00029
NM_001379081.2(FREM1):c.70A>G (p.Thr24Ala) rs372699811 0.00026
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn) rs200650442 0.00025
NM_001379081.2(FREM1):c.3756A>G (p.Gln1252=) rs373197206 0.00022
NM_001379081.2(FREM1):c.4941C>T (p.Tyr1647=) rs373880888 0.00020
NM_001379081.2(FREM1):c.1640C>G (p.Ala547Gly) rs201056172 0.00019
NM_001379081.2(FREM1):c.2601C>T (p.Thr867=) rs369150540 0.00019
NM_001379081.2(FREM1):c.2896G>A (p.Gly966Ser) rs373345277 0.00019
NM_001379081.2(FREM1):c.546G>T (p.Leu182=) rs369937228 0.00019
NM_001379081.2(FREM1):c.550G>A (p.Ala184Thr) rs199682518 0.00019
NM_001379081.2(FREM1):c.3404T>C (p.Ile1135Thr) rs187388944 0.00016
NM_001379081.2(FREM1):c.1393+6T>C rs145871721 0.00015
NM_001379081.2(FREM1):c.2450G>A (p.Arg817Gln) rs200495440 0.00015
NM_001379081.2(FREM1):c.4069G>A (p.Gly1357Arg) rs775399423 0.00015
NM_001379081.2(FREM1):c.324T>A (p.Leu108=) rs781396064 0.00013
NM_001379081.2(FREM1):c.329+10A>C rs369341108 0.00013
NM_001379081.2(FREM1):c.3471+9C>T rs377668876 0.00013
NM_001379081.2(FREM1):c.3857T>G (p.Met1286Arg) rs375951503 0.00013
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg) rs281875281 0.00013
NM_001379081.2(FREM1):c.3552G>A (p.Leu1184=) rs371506251 0.00011
NM_001379081.2(FREM1):c.3860A>G (p.Asn1287Ser) rs748356480 0.00011
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met) rs201617511 0.00011
NM_001379081.2(FREM1):c.533C>T (p.Ala178Val) rs201834847 0.00011
NM_001379081.2(FREM1):c.6189C>T (p.Tyr2063=) rs779712053 0.00011
NM_001379081.2(FREM1):c.3340A>T (p.Ile1114Leu) rs369645961 0.00010
NM_001379081.2(FREM1):c.6010-3A>G rs191713464 0.00010
NM_001379081.2(FREM1):c.8C>T (p.Ser3Phe) rs201217735 0.00010
NM_001379081.2(FREM1):c.1329C>T (p.Asp443=) rs201393312 0.00009
NM_001379081.2(FREM1):c.2420C>G (p.Thr807Ser) rs768631811 0.00009
NM_001379081.2(FREM1):c.261C>T (p.Asn87=) rs370943663 0.00009
NM_001379081.2(FREM1):c.4552G>T (p.Ala1518Ser) rs775792241 0.00009
NM_001379081.2(FREM1):c.571G>A (p.Gly191Arg) rs370556388 0.00009
NM_001379081.2(FREM1):c.6430C>T (p.Arg2144Cys) rs747977032 0.00009
NM_001379081.2(FREM1):c.1739-17T>C rs191993020 0.00008
NM_001379081.2(FREM1):c.6222C>T (p.Thr2074=) rs370887201 0.00008
NM_001379081.2(FREM1):c.329+12G>A rs552377277 0.00007
NM_001379081.2(FREM1):c.1288C>T (p.Arg430Ter) rs369363695 0.00006
NM_001379081.2(FREM1):c.1492C>T (p.Arg498Trp) rs200642807 0.00006
NM_001379081.2(FREM1):c.2640+16C>G rs779202191 0.00006
NM_001379081.2(FREM1):c.3542A>T (p.Asp1181Val) rs200883446 0.00006
NM_001379081.2(FREM1):c.3573A>G (p.Pro1191=) rs375774862 0.00006
NM_001379081.2(FREM1):c.3789C>T (p.Thr1263=) rs369457169 0.00006
NM_001379081.2(FREM1):c.4879G>T (p.Ala1627Ser) rs370198850 0.00006
NM_001379081.2(FREM1):c.4983T>A (p.Pro1661=) rs111333359 0.00006
NM_001379081.2(FREM1):c.5188T>G (p.Ser1730Ala) rs370677344 0.00006
NM_001379081.2(FREM1):c.578C>G (p.Pro193Arg) rs377565472 0.00006
NM_001379081.2(FREM1):c.5956C>T (p.Leu1986=) rs375669260 0.00006
NM_001379081.2(FREM1):c.1038T>C (p.Thr346=) rs773920119 0.00004
NM_001379081.2(FREM1):c.1882-14C>G rs201311456 0.00004
NM_001379081.2(FREM1):c.2226C>A (p.Pro742=) rs373535650 0.00004
NM_001379081.2(FREM1):c.241G>A (p.Asp81Asn) rs749580522 0.00004
NM_001379081.2(FREM1):c.3094G>A (p.Val1032Met) rs544959201 0.00004
NM_001379081.2(FREM1):c.3378A>G (p.Thr1126=) rs202213402 0.00004
NM_001379081.2(FREM1):c.3904A>G (p.Ile1302Val) rs577186728 0.00004
NM_001379081.2(FREM1):c.3932T>C (p.Ile1311Thr) rs182527895 0.00004
NM_001379081.2(FREM1):c.4476C>T (p.His1492=) rs368796043 0.00004
NM_001379081.2(FREM1):c.454C>T (p.Gln152Ter) rs774044026 0.00004
NM_001379081.2(FREM1):c.5779C>T (p.Arg1927Cys) rs754692429 0.00004
NM_001379081.2(FREM1):c.5942T>A (p.Ile1981Asn) rs183882265 0.00004
NM_001379081.2(FREM1):c.6104G>A (p.Gly2035Glu) rs771531342 0.00004
NM_001379081.2(FREM1):c.982C>G (p.Pro328Ala) rs761361279 0.00004
NM_001379081.2(FREM1):c.1357G>A (p.Val453Ile) rs748962196 0.00003
NM_001379081.2(FREM1):c.246C>T (p.Cys82=) rs766485109 0.00003
NM_001379081.2(FREM1):c.4263C>T (p.Asp1421=) rs773027758 0.00003
NM_001379081.2(FREM1):c.4684C>G (p.Leu1562Val) rs759674293 0.00003
NM_001379081.2(FREM1):c.5205-4A>G rs746001376 0.00003
NM_001379081.2(FREM1):c.329+7G>A rs180917208 0.00002
NM_001379081.2(FREM1):c.4264G>A (p.Gly1422Arg) rs771800252 0.00002
NM_001379081.2(FREM1):c.1053C>T (p.His351=) rs371463084 0.00001
NM_001379081.2(FREM1):c.1166T>C (p.Val389Ala) rs772311418 0.00001
NM_001379081.2(FREM1):c.1202C>T (p.Thr401Ile) rs781583560 0.00001
NM_001379081.2(FREM1):c.1853A>G (p.His618Arg) rs200445890 0.00001
NM_001379081.2(FREM1):c.2170-12C>G rs778145981 0.00001
NM_001379081.2(FREM1):c.2640+7A>G rs772475006 0.00001
NM_001379081.2(FREM1):c.292A>G (p.Ile98Val) rs371148891 0.00001
NM_001379081.2(FREM1):c.3030G>A (p.Val1010=) rs1360682452 0.00001
NM_001379081.2(FREM1):c.3274+4A>G rs761999855 0.00001
NM_001379081.2(FREM1):c.3395C>A (p.Ser1132Tyr) rs1818099210 0.00001
NM_001379081.2(FREM1):c.3562A>G (p.Thr1188Ala) rs761348644 0.00001
NM_001379081.2(FREM1):c.3813T>A (p.Val1271=) rs745782166 0.00001
NM_001379081.2(FREM1):c.382C>G (p.Leu128Val) rs886043843 0.00001
NM_001379081.2(FREM1):c.396T>C (p.Cys132=) rs1040244120 0.00001
NM_001379081.2(FREM1):c.4427C>G (p.Ser1476Cys) rs1281430978 0.00001
NM_001379081.2(FREM1):c.4477G>A (p.Gly1493Arg) rs536683402 0.00001
NM_001379081.2(FREM1):c.4542G>C (p.Gly1514=) rs545742838 0.00001
NM_001379081.2(FREM1):c.4616C>T (p.Ala1539Val) rs753002186 0.00001
NM_001379081.2(FREM1):c.4754A>G (p.Asp1585Gly) rs544905717 0.00001
NM_001379081.2(FREM1):c.4801C>A (p.Gln1601Lys) rs550726565 0.00001
NM_001379081.2(FREM1):c.5186A>G (p.Asn1729Ser) rs1211552660 0.00001
NM_001379081.2(FREM1):c.544C>G (p.Leu182Val) rs1230078063 0.00001
NM_001379081.2(FREM1):c.6037T>A (p.Cys2013Ser) rs1420458990 0.00001
NM_001379081.2(FREM1):c.829-1G>C rs1244506651 0.00001
NM_001379081.2(FREM1):c.973G>T (p.Asp325Tyr) rs1429190733 0.00001
NM_001379081.2(FREM1):c.988C>T (p.Pro330Ser) rs780012875 0.00001
GRCh37/hg19 9p22.3(chr9:14724200-14860436)x1
GRCh37/hg19 9p22.3(chr9:14757743-14830372)x1
GRCh37/hg19 9p22.3(chr9:14800838-14860305)x1
GRCh37/hg19 9p22.3(chr9:14801687-14856284)x1
GRCh37/hg19 9p22.3(chr9:14851617-15060291)x1
NC_000009.11:g.(?_14737394)_(14868975_?)del
NC_000009.11:g.(?_14737394)_(14868975_?)dup
NC_000009.11:g.(?_14801630)_(14859502_?)del
NM_001370058.2(FREM1):c.1596+455del
NM_001379081.2(FREM1):c.-135G>C rs12238629
NM_001379081.2(FREM1):c.1019C>T (p.Pro340Leu)
NM_001379081.2(FREM1):c.1020G>A (p.Pro340=)
NM_001379081.2(FREM1):c.1104C>T (p.Ile368=)
NM_001379081.2(FREM1):c.1105G>A (p.Ala369Thr)
NM_001379081.2(FREM1):c.1117C>T (p.Pro373Ser)
NM_001379081.2(FREM1):c.1153-14_1153-13del
NM_001379081.2(FREM1):c.1157A>C (p.Glu386Ala)
NM_001379081.2(FREM1):c.1173C>T (p.Asp391=)
NM_001379081.2(FREM1):c.1173CTT[2] (p.Phe394del)
NM_001379081.2(FREM1):c.1240C>T (p.Pro414Ser)
NM_001379081.2(FREM1):c.1262-3T>C
NM_001379081.2(FREM1):c.1262-4A>G
NM_001379081.2(FREM1):c.1296C>T (p.Ile432=)
NM_001379081.2(FREM1):c.1320C>T (p.Val440=)
NM_001379081.2(FREM1):c.1321G>A (p.Asp441Asn)
NM_001379081.2(FREM1):c.1325A>G (p.Asn442Ser)
NM_001379081.2(FREM1):c.1393+17G>T
NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala) rs41298151
NM_001379081.2(FREM1):c.1425C>T (p.Asp475=) rs1588306146
NM_001379081.2(FREM1):c.1432G>T (p.Ala478Ser)
NM_001379081.2(FREM1):c.1463G>A (p.Ser488Asn)
NM_001379081.2(FREM1):c.1465G>A (p.Asp489Asn)
NM_001379081.2(FREM1):c.1518C>T (p.Ile506=)
NM_001379081.2(FREM1):c.1539C>T (p.Asn513=)
NM_001379081.2(FREM1):c.1565C>T (p.Pro522Leu)
NM_001379081.2(FREM1):c.1578C>A (p.Thr526=)
NM_001379081.2(FREM1):c.1616T>A (p.Leu539Gln)
NM_001379081.2(FREM1):c.1634T>C (p.Leu545Pro) rs1588304573
NM_001379081.2(FREM1):c.1637G>A (p.Arg546Gln)
NM_001379081.2(FREM1):c.1654G>A (p.Ala552Thr)
NM_001379081.2(FREM1):c.1795C>T (p.Arg599Cys)
NM_001379081.2(FREM1):c.1796G>A (p.Arg599His)
NM_001379081.2(FREM1):c.1875G>A (p.Val625=)
NM_001379081.2(FREM1):c.1875G>T (p.Val625=)
NM_001379081.2(FREM1):c.1881+58G>C rs1552896
NM_001379081.2(FREM1):c.1902T>C (p.Thr634=)
NM_001379081.2(FREM1):c.1945C>T (p.Arg649Trp) rs121912609
NM_001379081.2(FREM1):c.2008G>A (p.Asp670Asn)
NM_001379081.2(FREM1):c.2042C>T (p.Thr681Ile) rs1298355353
NM_001379081.2(FREM1):c.2044A>G (p.Ile682Val)
NM_001379081.2(FREM1):c.2058A>G (p.Pro686=)
NM_001379081.2(FREM1):c.2078+11del
NM_001379081.2(FREM1):c.2078+1G>T
NM_001379081.2(FREM1):c.2079-4T>G
NM_001379081.2(FREM1):c.2106G>A (p.Met702Ile) rs1223115613
NM_001379081.2(FREM1):c.2107G>T (p.Val703Leu)
NM_001379081.2(FREM1):c.2127A>G (p.Val709=)
NM_001379081.2(FREM1):c.2208C>T (p.Pro736=)
NM_001379081.2(FREM1):c.2212C>G (p.Gln738Glu) rs182946445
NM_001379081.2(FREM1):c.2223T>G (p.Gly741=)
NM_001379081.2(FREM1):c.2224C>T (p.Pro742Ser)
NM_001379081.2(FREM1):c.2299A>C (p.Asn767His) rs1821701872
NM_001379081.2(FREM1):c.2321A>G (p.Asp774Gly)
NM_001379081.2(FREM1):c.2337+17A>G
NM_001379081.2(FREM1):c.2337+18T>C
NM_001379081.2(FREM1):c.2337+192A>G rs12342625
NM_001379081.2(FREM1):c.234+10A>T
NM_001379081.2(FREM1):c.234+12C>T
NM_001379081.2(FREM1):c.234+1G>T
NM_001379081.2(FREM1):c.2340G>T (p.Ala780=)
NM_001379081.2(FREM1):c.2351C>A (p.Pro784His)
NM_001379081.2(FREM1):c.2377A>G (p.Ser793Gly)
NM_001379081.2(FREM1):c.2385C>A (p.Ile795=)
NM_001379081.2(FREM1):c.2387G>C (p.Ser796Thr)
NM_001379081.2(FREM1):c.2423A>G (p.Lys808Arg)
NM_001379081.2(FREM1):c.243C>G (p.Asp81Glu)
NM_001379081.2(FREM1):c.2459C>T (p.Pro820Leu) rs868815512
NM_001379081.2(FREM1):c.245G>T (p.Cys82Phe)
NM_001379081.2(FREM1):c.2478G>A (p.Glu826=)
NM_001379081.2(FREM1):c.253C>T (p.Leu85Phe) rs868305638
NM_001379081.2(FREM1):c.2542G>T (p.Val848Phe)
NM_001379081.2(FREM1):c.2547-15del
NM_001379081.2(FREM1):c.2563A>G (p.Thr855Ala)
NM_001379081.2(FREM1):c.2604T>C (p.Asp868=) rs2130638517
NM_001379081.2(FREM1):c.2640+11A>C
NM_001379081.2(FREM1):c.2894-11G>T
NM_001379081.2(FREM1):c.2898C>T (p.Gly966=)
NM_001379081.2(FREM1):c.2945C>T (p.Ser982Leu)
NM_001379081.2(FREM1):c.2963C>G (p.Pro988Arg)
NM_001379081.2(FREM1):c.3017C>T (p.Ala1006Val)
NM_001379081.2(FREM1):c.3020C>G (p.Ser1007Cys)
NM_001379081.2(FREM1):c.3021C>G (p.Ser1007=)
NM_001379081.2(FREM1):c.3044T>A (p.Ile1015Asn)
NM_001379081.2(FREM1):c.3045C>T (p.Ile1015=)
NM_001379081.2(FREM1):c.3088+156C>T rs79215121
NM_001379081.2(FREM1):c.3088+18T>C
NM_001379081.2(FREM1):c.3092C>T (p.Pro1031Leu)
NM_001379081.2(FREM1):c.3093C>T (p.Pro1031=)
NM_001379081.2(FREM1):c.3114C>G (p.Gly1038=) rs765109399
NM_001379081.2(FREM1):c.3138C>T (p.Asn1046=)
NM_001379081.2(FREM1):c.3267A>C (p.Ile1089=)
NM_001379081.2(FREM1):c.3274+15C>T
NM_001379081.2(FREM1):c.3275-3T>C
NM_001379081.2(FREM1):c.329+11C>T
NM_001379081.2(FREM1):c.329+7G>T rs180917208
NM_001379081.2(FREM1):c.3298A>T (p.Asn1100Tyr)
NM_001379081.2(FREM1):c.330-18G>T
NM_001379081.2(FREM1):c.3300C>A (p.Asn1100Lys)
NM_001379081.2(FREM1):c.3300C>T (p.Asn1100=)
NM_001379081.2(FREM1):c.3317A>G (p.Tyr1106Cys)
NM_001379081.2(FREM1):c.3330G>A (p.Arg1110=)
NM_001379081.2(FREM1):c.3339G>A (p.Arg1113=)
NM_001379081.2(FREM1):c.3357C>A (p.Asp1119Glu)
NM_001379081.2(FREM1):c.3373G>A (p.Val1125Ile)
NM_001379081.2(FREM1):c.3377C>T (p.Thr1126Ile)
NM_001379081.2(FREM1):c.3378A>T (p.Thr1126=)
NM_001379081.2(FREM1):c.3399G>A (p.Leu1133=)
NM_001379081.2(FREM1):c.3420A>T (p.Ile1140=)
NM_001379081.2(FREM1):c.342A>G (p.Arg114=)
NM_001379081.2(FREM1):c.3439G>T (p.Glu1147Ter)
NM_001379081.2(FREM1):c.344A>T (p.Asp115Val)
NM_001379081.2(FREM1):c.3471+18A>G
NM_001379081.2(FREM1):c.347C>G (p.Thr116Ser) rs747949999
NM_001379081.2(FREM1):c.3484C>G (p.Gln1162Glu)
NM_001379081.2(FREM1):c.3513C>G (p.Ile1171Met) rs774280190
NM_001379081.2(FREM1):c.3517G>T (p.Ala1173Ser) rs564039071
NM_001379081.2(FREM1):c.3535C>A (p.Pro1179Thr)
NM_001379081.2(FREM1):c.3541G>C (p.Asp1181His)
NM_001379081.2(FREM1):c.3547C>A (p.Leu1183Met)
NM_001379081.2(FREM1):c.3575G>T (p.Arg1192Leu)
NM_001379081.2(FREM1):c.3585C>T (p.Leu1195=)
NM_001379081.2(FREM1):c.3593A>C (p.Asp1198Ala)
NM_001379081.2(FREM1):c.3598G>A (p.Gly1200Arg)
NM_001379081.2(FREM1):c.3600G>C (p.Gly1200=)
NM_001379081.2(FREM1):c.3615C>G (p.Phe1205Leu)
NM_001379081.2(FREM1):c.3619G>C (p.Glu1207Gln)
NM_001379081.2(FREM1):c.366C>G (p.Ile122Met)
NM_001379081.2(FREM1):c.3681A>G (p.Glu1227=)
NM_001379081.2(FREM1):c.3688A>G (p.Lys1230Glu)
NM_001379081.2(FREM1):c.3694+1G>T rs1187630820
NM_001379081.2(FREM1):c.36G>C (p.Val12=)
NM_001379081.2(FREM1):c.3717TGA[1] (p.Asp1241del)
NM_001379081.2(FREM1):c.3723C>T (p.Asp1241=)
NM_001379081.2(FREM1):c.3732C>A (p.Ser1244Arg)
NM_001379081.2(FREM1):c.3756A>T (p.Gln1252His)
NM_001379081.2(FREM1):c.3784A>T (p.Lys1262Ter) rs2133202137
NM_001379081.2(FREM1):c.3802G>T (p.Val1268Phe) rs554857144
NM_001379081.2(FREM1):c.3839+11T>G
NM_001379081.2(FREM1):c.3839+17G>T
NM_001379081.2(FREM1):c.3839+197G>C rs117899256
NM_001379081.2(FREM1):c.3839+71GT[7] rs144830277
NM_001379081.2(FREM1):c.3840-10C>G
NM_001379081.2(FREM1):c.3840-2A>G
NM_001379081.2(FREM1):c.3854C>T (p.Ala1285Val)
NM_001379081.2(FREM1):c.3865G>A (p.Gly1289Ser)
NM_001379081.2(FREM1):c.387A>T (p.Glu129Asp)
NM_001379081.2(FREM1):c.3892A>T (p.Ile1298Phe)
NM_001379081.2(FREM1):c.3910G>T (p.Glu1304Ter) rs1131691724
NM_001379081.2(FREM1):c.3914A>G (p.Asp1305Gly)
NM_001379081.2(FREM1):c.3925del (p.Glu1309fs) rs773469926
NM_001379081.2(FREM1):c.3926AGA[1] (p.Lys1310del)
NM_001379081.2(FREM1):c.3955C>T (p.Pro1319Ser)
NM_001379081.2(FREM1):c.3981+7G>A
NM_001379081.2(FREM1):c.3982-22_3982-19del
NM_001379081.2(FREM1):c.4038G>T (p.Val1346=)
NM_001379081.2(FREM1):c.4056A>G (p.Arg1352=)
NM_001379081.2(FREM1):c.4064A>C (p.His1355Pro) rs763901210
NM_001379081.2(FREM1):c.4068C>T (p.Thr1356=)
NM_001379081.2(FREM1):c.4114T>G (p.Trp1372Gly)
NM_001379081.2(FREM1):c.4119T>C (p.Asp1373=)
NM_001379081.2(FREM1):c.4128C>T (p.Asn1376=)
NM_001379081.2(FREM1):c.4168A>G (p.Met1390Val)
NM_001379081.2(FREM1):c.4170G>T (p.Met1390Ile)
NM_001379081.2(FREM1):c.4177+11G>A
NM_001379081.2(FREM1):c.4178-17C>A
NM_001379081.2(FREM1):c.4178-1G>A rs2132864714
NM_001379081.2(FREM1):c.4204C>G (p.Leu1402Val) rs770679670
NM_001379081.2(FREM1):c.4206C>A (p.Leu1402=)
NM_001379081.2(FREM1):c.4243A>G (p.Thr1415Ala) rs2132862989
NM_001379081.2(FREM1):c.4244C>G (p.Thr1415Ser) rs75677527
NM_001379081.2(FREM1):c.4244C>T (p.Thr1415Ile)
NM_001379081.2(FREM1):c.4247C>T (p.Thr1416Met)
NM_001379081.2(FREM1):c.4312C>T (p.Arg1438Ter)
NM_001379081.2(FREM1):c.4318G>A (p.Gly1440Ser) rs121912610
NM_001379081.2(FREM1):c.4326C>T (p.Ile1442=)
NM_001379081.2(FREM1):c.4353C>T (p.Pro1451=)
NM_001379081.2(FREM1):c.4365C>T (p.Phe1455=)
NM_001379081.2(FREM1):c.4367G>A (p.Ser1456Asn) rs794727407
NM_001379081.2(FREM1):c.4375G>C (p.Asp1459His)
NM_001379081.2(FREM1):c.4375dup (p.Asp1459fs) rs2132858731
NM_001379081.2(FREM1):c.4392A>C (p.Thr1464=)
NM_001379081.2(FREM1):c.4405C>T (p.His1469Tyr)
NM_001379081.2(FREM1):c.4410G>A (p.Lys1470=)
NM_001379081.2(FREM1):c.4413C>T (p.Ser1471=)
NM_001379081.2(FREM1):c.4443-3C>G
NM_001379081.2(FREM1):c.4468_4469insG (p.Thr1490fs) rs1563900085
NM_001379081.2(FREM1):c.447C>G (p.Gly149=)
NM_001379081.2(FREM1):c.4482G>A (p.Val1494=)
NM_001379081.2(FREM1):c.4500G>A (p.Glu1500=) rs561131255
NM_001379081.2(FREM1):c.4563C>A (p.Ala1521=) rs60091943
NM_001379081.2(FREM1):c.4578C>G (p.Ser1526=)
NM_001379081.2(FREM1):c.4580C>A (p.Pro1527His)
NM_001379081.2(FREM1):c.4583A>G (p.Asp1528Gly)
NM_001379081.2(FREM1):c.4599C>T (p.Thr1533=) rs540319616
NM_001379081.2(FREM1):c.459G>T (p.Ala153=)
NM_001379081.2(FREM1):c.4600G>A (p.Asp1534Asn)
NM_001379081.2(FREM1):c.4639G>T (p.Val1547Phe)
NM_001379081.2(FREM1):c.4644G>C (p.Gln1548His)
NM_001379081.2(FREM1):c.4651del (p.Gln1551fs) rs1563898470
NM_001379081.2(FREM1):c.4665C>G (p.Leu1555=)
NM_001379081.2(FREM1):c.4665C>T (p.Leu1555=)
NM_001379081.2(FREM1):c.4677G>A (p.Gly1559=)
NM_001379081.2(FREM1):c.4686A>G (p.Leu1562=)
NM_001379081.2(FREM1):c.4692A>G (p.Gln1564=)
NM_001379081.2(FREM1):c.4738C>T (p.Arg1580Trp)
NM_001379081.2(FREM1):c.4770C>G (p.Cys1590Trp)
NM_001379081.2(FREM1):c.4779C>G (p.Phe1593Leu)
NM_001379081.2(FREM1):c.4791_4792inv (p.Gly1598Arg)
NM_001379081.2(FREM1):c.4820G>C (p.Gly1607Ala)
NM_001379081.2(FREM1):c.483C>T (p.Phe161=) rs540878376
NM_001379081.2(FREM1):c.4848C>T (p.Phe1616=)
NM_001379081.2(FREM1):c.4857+57_4857+58insC rs71323911
NM_001379081.2(FREM1):c.4857+57_4857+58insCT rs71323911
NM_001379081.2(FREM1):c.4858-17C>T
NM_001379081.2(FREM1):c.4916T>A (p.Val1639Glu)
NM_001379081.2(FREM1):c.4941C>A (p.Tyr1647Ter) rs373880888
NM_001379081.2(FREM1):c.4960C>T (p.Arg1654Cys)
NM_001379081.2(FREM1):c.4962C>T (p.Arg1654=)
NM_001379081.2(FREM1):c.4990G>A (p.Glu1664Lys)
NM_001379081.2(FREM1):c.4992_4993insA (p.Asp1665fs) rs2132498352
NM_001379081.2(FREM1):c.5028A>G (p.Pro1676=)
NM_001379081.2(FREM1):c.5049C>G (p.Asn1683Lys) rs200063334
NM_001379081.2(FREM1):c.5059+18C>G
NM_001379081.2(FREM1):c.5157G>A (p.Val1719=)
NM_001379081.2(FREM1):c.516C>T (p.Thr172=) rs41265310
NM_001379081.2(FREM1):c.5204+8C>G rs376644135
NM_001379081.2(FREM1):c.5205-1G>C
NM_001379081.2(FREM1):c.5205-1G>T rs1064797351
NM_001379081.2(FREM1):c.5205-5C>A
NM_001379081.2(FREM1):c.5220G>T (p.Trp1740Cys) rs995343347
NM_001379081.2(FREM1):c.5232A>G (p.Glu1744=)
NM_001379081.2(FREM1):c.5244C>G (p.Thr1748=) rs150403611
NM_001379081.2(FREM1):c.5268G>A (p.Val1756=)
NM_001379081.2(FREM1):c.5313C>T (p.Asp1771=)
NM_001379081.2(FREM1):c.5316G>A (p.Ser1772=)
NM_001379081.2(FREM1):c.5316G>T (p.Ser1772=) rs775863172
NM_001379081.2(FREM1):c.5335-11T>C
NM_001379081.2(FREM1):c.5335-11del rs140882884
NM_001379081.2(FREM1):c.5335-11dup rs140882884
NM_001379081.2(FREM1):c.5335-6C>G rs1298255599
NM_001379081.2(FREM1):c.5335-7T>C
NM_001379081.2(FREM1):c.5335-8C>A
NM_001379081.2(FREM1):c.5335-8dup rs201316684
NM_001379081.2(FREM1):c.5361A>G (p.Gly1787=)
NM_001379081.2(FREM1):c.5373C>T (p.Thr1791=)
NM_001379081.2(FREM1):c.5403C>T (p.Asp1801=)
NM_001379081.2(FREM1):c.5407+45dup rs57793294
NM_001379081.2(FREM1):c.5408-17del
NM_001379081.2(FREM1):c.5412G>A (p.Met1804Ile) rs1843121623
NM_001379081.2(FREM1):c.5449G>A (p.Gly1817Arg)
NM_001379081.2(FREM1):c.5532A>G (p.Ala1844=) rs1249507655
NM_001379081.2(FREM1):c.5556A>G (p.Gly1852=)
NM_001379081.2(FREM1):c.5594A>T (p.Lys1865Met)
NM_001379081.2(FREM1):c.5670T>C (p.Phe1890=) rs756654353
NM_001379081.2(FREM1):c.5678A>G (p.Glu1893Gly)
NM_001379081.2(FREM1):c.5704C>A (p.Gln1902Lys)
NM_001379081.2(FREM1):c.5729C>T (p.Thr1910Ile)
NM_001379081.2(FREM1):c.5735G>A (p.Arg1912Gln)
NM_001379081.2(FREM1):c.5780G>A (p.Arg1927His)
NM_001379081.2(FREM1):c.5796+19T>C
NM_001379081.2(FREM1):c.5797-7A>T
NM_001379081.2(FREM1):c.5800C>T (p.Arg1934Cys)
NM_001379081.2(FREM1):c.5801G>A (p.Arg1934His)
NM_001379081.2(FREM1):c.5808C>T (p.Ser1936=)
NM_001379081.2(FREM1):c.5816A>G (p.Tyr1939Cys)
NM_001379081.2(FREM1):c.581G>A (p.Arg194Gln)
NM_001379081.2(FREM1):c.5877T>C (p.Asp1959=)
NM_001379081.2(FREM1):c.5892T>C (p.Thr1964=)
NM_001379081.2(FREM1):c.5934A>G (p.Gln1978=)
NM_001379081.2(FREM1):c.6010-11C>T
NM_001379081.2(FREM1):c.6039C>T (p.Cys2013=)
NM_001379081.2(FREM1):c.6109G>A (p.Ala2037Thr)
NM_001379081.2(FREM1):c.6109G>T (p.Ala2037Ser)
NM_001379081.2(FREM1):c.6138+13C>G
NM_001379081.2(FREM1):c.6138+14T>C
NM_001379081.2(FREM1):c.6138+15G>A
NM_001379081.2(FREM1):c.6139-15A>G
NM_001379081.2(FREM1):c.6139-2A>G
NM_001379081.2(FREM1):c.6139-4T>A rs77135480
NM_001379081.2(FREM1):c.6139-4T>C rs77135480
NM_001379081.2(FREM1):c.6144G>A (p.Val2048=)
NM_001379081.2(FREM1):c.617T>C (p.Phe206Ser) rs2131557195
NM_001379081.2(FREM1):c.6186C>T (p.Gly2062=)
NM_001379081.2(FREM1):c.6222C>G (p.Thr2074=)
NM_001379081.2(FREM1):c.6231G>A (p.Ala2077=) rs148735553
NM_001379081.2(FREM1):c.6231G>T (p.Ala2077=) rs148735553
NM_001379081.2(FREM1):c.624A>G (p.Pro208=)
NM_001379081.2(FREM1):c.6254+45A>T rs41265300
NM_001379081.2(FREM1):c.6271G>A (p.Val2091Ile) rs281875282
NM_001379081.2(FREM1):c.6282C>A (p.Phe2094Leu)
NM_001379081.2(FREM1):c.6284C>G (p.Ser2095Cys)
NM_001379081.2(FREM1):c.6298C>T (p.Arg2100Trp) rs200489692
NM_001379081.2(FREM1):c.632-11G>A
NM_001379081.2(FREM1):c.632-14G>A
NM_001379081.2(FREM1):c.6340+9C>T rs562121209
NM_001379081.2(FREM1):c.6341-1G>A rs772360985
NM_001379081.2(FREM1):c.6359A>G (p.His2120Arg)
NM_001379081.2(FREM1):c.6392C>T (p.Pro2131Leu)
NM_001379081.2(FREM1):c.6408T>C (p.Asn2136=)
NM_001379081.2(FREM1):c.6418G>A (p.Gly2140Arg)
NM_001379081.2(FREM1):c.6431G>A (p.Arg2144His)
NM_001379081.2(FREM1):c.6454G>A (p.Val2152Ile) rs886063764
NM_001379081.2(FREM1):c.6474G>A (p.Gly2158=)
NM_001379081.2(FREM1):c.6482A>T (p.Gln2161Leu)
NM_001379081.2(FREM1):c.6512A>G (p.His2171Arg)
NM_001379081.2(FREM1):c.672C>G (p.Thr224=) rs1588406105
NM_001379081.2(FREM1):c.674C>T (p.Pro225Leu)
NM_001379081.2(FREM1):c.693A>G (p.Gly231=)
NM_001379081.2(FREM1):c.6C>T (p.Asn2=)
NM_001379081.2(FREM1):c.718T>C (p.Phe240Leu)
NM_001379081.2(FREM1):c.737G>A (p.Arg246His)
NM_001379081.2(FREM1):c.738T>C (p.Arg246=)
NM_001379081.2(FREM1):c.770T>C (p.Ile257Thr)
NM_001379081.2(FREM1):c.828+13G>A
NM_001379081.2(FREM1):c.828+15T>G
NM_001379081.2(FREM1):c.828+5A>C
NM_001379081.2(FREM1):c.829-18T>C
NM_001379081.2(FREM1):c.873G>A (p.Pro291=)
NM_001379081.2(FREM1):c.897C>T (p.Phe299=)
NM_001379081.2(FREM1):c.898A>G (p.Met300Val)
NM_001379081.2(FREM1):c.923A>G (p.Asp308Gly)
NM_001379081.2(FREM1):c.939del (p.Ser314fs) rs1564076333
NM_001379081.2(FREM1):c.969AGA[1] (p.Glu324del)
NM_001379081.2(FREM1):c.987A>T (p.Lys329Asn)

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