ClinVar Miner

List of variants in gene FREM1 studied for bone disorder

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 431
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HGVS dbSNP gnomAD frequency
NM_001379081.2(FREM1):c.3472-20T>C rs77508679 0.01216
NM_001379081.2(FREM1):c.2337+19A>G rs201898982 0.00158
NM_001379081.2(FREM1):c.6258C>T (p.Tyr2086=) rs187325866 0.00113
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_001379081.2(FREM1):c.5049C>T (p.Asn1683=) rs200063334 0.00089
NM_001379081.2(FREM1):c.4867T>C (p.Leu1623=) rs369101934 0.00064
NM_001379081.2(FREM1):c.4995C>T (p.Asp1665=) rs372941168 0.00049
NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe) rs377466529 0.00038
NM_001379081.2(FREM1):c.4170G>T (p.Met1390Ile) rs370677506 0.00035
NM_001379081.2(FREM1):c.4499A>T (p.Glu1500Val) rs281875280 0.00033
NM_001379081.2(FREM1):c.6279A>G (p.Val2093=) rs373107801 0.00033
NM_001379081.2(FREM1):c.2107G>T (p.Val703Leu) rs201018403 0.00029
NM_001379081.2(FREM1):c.70A>G (p.Thr24Ala) rs372699811 0.00026
NM_001379081.2(FREM1):c.1165G>T (p.Val389Leu) rs370159965 0.00025
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn) rs200650442 0.00024
NM_001379081.2(FREM1):c.3756A>G (p.Gln1252=) rs373197206 0.00022
NM_001379081.2(FREM1):c.3955C>T (p.Pro1319Ser) rs377011197 0.00020
NM_001379081.2(FREM1):c.4941C>T (p.Tyr1647=) rs373880888 0.00020
NM_001379081.2(FREM1):c.2896G>A (p.Gly966Ser) rs373345277 0.00018
NM_001379081.2(FREM1):c.1345C>T (p.Arg449Trp) rs148995688 0.00017
NM_001379081.2(FREM1):c.550G>A (p.Ala184Thr) rs199682518 0.00017
NM_001379081.2(FREM1):c.5603C>T (p.Thr1868Ile) rs375631654 0.00017
NM_001379081.2(FREM1):c.4644G>A (p.Gln1548=) rs373755380 0.00016
NM_001379081.2(FREM1):c.2450G>A (p.Arg817Gln) rs200495440 0.00015
NM_001379081.2(FREM1):c.666C>G (p.Ser222Arg) rs371407653 0.00015
NM_001379081.2(FREM1):c.2449C>T (p.Arg817Trp) rs563740380 0.00013
NM_001379081.2(FREM1):c.3857T>G (p.Met1286Arg) rs375951503 0.00013
NM_001379081.2(FREM1):c.4069G>A (p.Gly1357Arg) rs775399423 0.00013
NM_001379081.2(FREM1):c.4738C>T (p.Arg1580Trp) rs375476655 0.00012
NM_001379081.2(FREM1):c.3598G>A (p.Gly1200Arg) rs372956703 0.00011
NM_001379081.2(FREM1):c.3860A>G (p.Asn1287Ser) rs748356480 0.00011
NM_001379081.2(FREM1):c.4181A>G (p.Asp1394Gly) rs199689629 0.00011
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met) rs201617511 0.00011
NM_001379081.2(FREM1):c.6107T>C (p.Ile2036Thr) rs747665116 0.00011
NM_001379081.2(FREM1):c.3045C>T (p.Ile1015=) rs371960930 0.00010
NM_001379081.2(FREM1):c.6010-3A>G rs191713464 0.00010
NM_001379081.2(FREM1):c.1540G>A (p.Val514Ile) rs778272482 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.3340A>T (p.Ile1114Leu) rs369645961 0.00009
NM_001379081.2(FREM1):c.4552G>T (p.Ala1518Ser) rs775792241 0.00009
NM_001379081.2(FREM1):c.4580C>A (p.Pro1527His) rs369703203 0.00009
NM_001379081.2(FREM1):c.6430C>T (p.Arg2144Cys) rs747977032 0.00009
NM_001379081.2(FREM1):c.5801G>A (p.Arg1934His) rs778288375 0.00008
NM_001379081.2(FREM1):c.1796G>A (p.Arg599His) rs61747865 0.00007
NM_001379081.2(FREM1):c.373G>T (p.Val125Phe) rs772899075 0.00007
NM_001379081.2(FREM1):c.517G>A (p.Val173Ile) rs539557870 0.00007
NM_001379081.2(FREM1):c.1394-15T>C rs762215552 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.3542A>T (p.Asp1181Val) rs200883446 0.00005
NM_001379081.2(FREM1):c.387A>T (p.Glu129Asp) rs749244243 0.00005
NM_001379081.2(FREM1):c.4238C>G (p.Thr1413Arg) rs200573582 0.00005
NM_001379081.2(FREM1):c.5596C>T (p.His1866Tyr) rs528734964 0.00005
NM_001379081.2(FREM1):c.578C>G (p.Pro193Arg) rs377565472 0.00005
NM_001379081.2(FREM1):c.6139-2A>G rs200778244 0.00005
NM_001379081.2(FREM1):c.1357G>A (p.Val453Ile) rs748962196 0.00004
NM_001379081.2(FREM1):c.1565C>T (p.Pro522Leu) rs377215290 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.3484C>G (p.Gln1162Glu) rs374011565 0.00004
NM_001379081.2(FREM1):c.3904A>G (p.Ile1302Val) rs577186728 0.00004
NM_001379081.2(FREM1):c.5942T>A (p.Ile1981Asn) rs183882265 0.00004
NM_001379081.2(FREM1):c.6286A>G (p.Arg2096Gly) rs377200008 0.00004
NM_001379081.2(FREM1):c.982C>G (p.Pro328Ala) rs761361279 0.00004
NM_001379081.2(FREM1):c.1508A>G (p.His503Arg) rs543077116 0.00003
NM_001379081.2(FREM1):c.2113A>G (p.Ser705Gly) rs200490112 0.00003
NM_001379081.2(FREM1):c.260A>G (p.Asn87Ser) rs373769187 0.00003
NM_001379081.2(FREM1):c.3373G>A (p.Val1125Ile) rs367677115 0.00003
NM_001379081.2(FREM1):c.553C>T (p.His185Tyr) rs764906137 0.00003
NM_001379081.2(FREM1):c.5779C>T (p.Arg1927Cys) rs754692429 0.00003
NM_001379081.2(FREM1):c.596G>A (p.Arg199His) rs780061331 0.00003
NM_001379081.2(FREM1):c.6104G>A (p.Gly2035Glu) rs771531342 0.00003
NM_001379081.2(FREM1):c.1232C>A (p.Thr411Lys) rs764904063 0.00002
NM_001379081.2(FREM1):c.1853A>G (p.His618Arg) rs200445890 0.00002
NM_001379081.2(FREM1):c.2945C>T (p.Ser982Leu) rs377212852 0.00002
NM_001379081.2(FREM1):c.382C>G (p.Leu128Val) rs886043843 0.00002
NM_001379081.2(FREM1):c.4264G>A (p.Gly1422Arg) rs771800252 0.00002
NM_001379081.2(FREM1):c.5594A>T (p.Lys1865Met) rs777922925 0.00002
NM_001379081.2(FREM1):c.6392C>T (p.Pro2131Leu) rs764505995 0.00002
NM_001379081.2(FREM1):c.-12G>C rs375233918 0.00001
NM_001379081.2(FREM1):c.100G>T (p.Val34Leu) rs749978636 0.00001
NM_001379081.2(FREM1):c.1240C>T (p.Pro414Ser) rs753862574 0.00001
NM_001379081.2(FREM1):c.1637G>A (p.Arg546Gln) rs779317289 0.00001
NM_001379081.2(FREM1):c.1815C>G (p.Ile605Met) rs763439818 0.00001
NM_001379081.2(FREM1):c.1882G>A (p.Val628Met) rs879804890 0.00001
NM_001379081.2(FREM1):c.1945C>T (p.Arg649Trp) rs121912609 0.00001
NM_001379081.2(FREM1):c.2008G>A (p.Asp670Asn) rs1822045694 0.00001
NM_001379081.2(FREM1):c.2042C>T (p.Thr681Ile) rs1298355353 0.00001
NM_001379081.2(FREM1):c.2170C>T (p.His724Tyr) rs755724341 0.00001
NM_001379081.2(FREM1):c.2351C>A (p.Pro784His) rs767551344 0.00001
NM_001379081.2(FREM1):c.2359G>A (p.Val787Met) rs1411075628 0.00001
NM_001379081.2(FREM1):c.246C>T (p.Cys82=) rs766485109 0.00001
NM_001379081.2(FREM1):c.2504G>A (p.Gly835Glu) rs779979968 0.00001
NM_001379081.2(FREM1):c.2542G>T (p.Val848Phe) rs760074290 0.00001
NM_001379081.2(FREM1):c.292A>G (p.Ile98Val) rs371148891 0.00001
NM_001379081.2(FREM1):c.3148G>A (p.Ala1050Thr) rs556974765 0.00001
NM_001379081.2(FREM1):c.3274+4A>G rs761999855 0.00001
NM_001379081.2(FREM1):c.3357C>A (p.Asp1119Glu) rs761057149 0.00001
NM_001379081.2(FREM1):c.3363C>G (p.Phe1121Leu) rs917238790 0.00001
NM_001379081.2(FREM1):c.3557G>A (p.Ser1186Asn) rs755824166 0.00001
NM_001379081.2(FREM1):c.3562A>G (p.Thr1188Ala) rs761348644 0.00001
NM_001379081.2(FREM1):c.3688A>G (p.Lys1230Glu) rs761978742 0.00001
NM_001379081.2(FREM1):c.3736G>A (p.Ala1246Thr) rs748768177 0.00001
NM_001379081.2(FREM1):c.3813T>A (p.Val1271=) rs745782166 0.00001
NM_001379081.2(FREM1):c.3840-2A>G rs1380643285 0.00001
NM_001379081.2(FREM1):c.3865G>A (p.Gly1289Ser) rs899514118 0.00001
NM_001379081.2(FREM1):c.419A>G (p.Asn140Ser) rs758497916 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.5072A>G (p.His1691Arg) rs755062740 0.00001
NM_001379081.2(FREM1):c.544C>G (p.Leu182Val) rs1230078063 0.00001
NM_001379081.2(FREM1):c.5735G>A (p.Arg1912Gln) rs576839770 0.00001
NM_001379081.2(FREM1):c.631C>T (p.Gln211Ter) rs990411562 0.00001
NM_001379081.2(FREM1):c.737G>A (p.Arg246His) rs749928640 0.00001
NM_001379081.2(FREM1):c.755C>T (p.Pro252Leu) rs1399635795 0.00001
NM_001379081.2(FREM1):c.973G>T (p.Asp325Tyr) rs1429190733 0.00001
NC_000009.12:g.(?_14762351)_(14792870_?)del
NM_001379081.2(FREM1):c.1059A>C (p.Arg353Ser)
NM_001379081.2(FREM1):c.1102A>T (p.Ile368Phe)
NM_001379081.2(FREM1):c.110G>A (p.Gly37Asp)
NM_001379081.2(FREM1):c.1130A>C (p.His377Pro)
NM_001379081.2(FREM1):c.114C>G (p.His38Gln)
NM_001379081.2(FREM1):c.1198A>G (p.Met400Val)
NM_001379081.2(FREM1):c.1199T>A (p.Met400Lys)
NM_001379081.2(FREM1):c.1243C>T (p.Arg415Cys)
NM_001379081.2(FREM1):c.1244G>A (p.Arg415His)
NM_001379081.2(FREM1):c.1261+1G>T
NM_001379081.2(FREM1):c.1284G>T (p.Gln428His)
NM_001379081.2(FREM1):c.1292C>T (p.Ala431Val)
NM_001379081.2(FREM1):c.1308G>C (p.Gln436His)
NM_001379081.2(FREM1):c.1321G>A (p.Asp441Asn) rs201154402
NM_001379081.2(FREM1):c.1325A>T (p.Asn442Ile)
NM_001379081.2(FREM1):c.1330G>A (p.Asp444Asn)
NM_001379081.2(FREM1):c.1337G>A (p.Gly446Asp)
NM_001379081.2(FREM1):c.1355C>T (p.Thr452Ile)
NM_001379081.2(FREM1):c.136G>A (p.Asp46Asn)
NM_001379081.2(FREM1):c.13A>T (p.Ser5Cys)
NM_001379081.2(FREM1):c.1441del (p.Val481fs)
NM_001379081.2(FREM1):c.1457A>T (p.Asp486Val)
NM_001379081.2(FREM1):c.1503T>G (p.Asp501Glu)
NM_001379081.2(FREM1):c.150C>T (p.Ala50=)
NM_001379081.2(FREM1):c.1556A>G (p.Asp519Gly)
NM_001379081.2(FREM1):c.1649_1650dup (p.Asp551fs)
NM_001379081.2(FREM1):c.1669A>G (p.Ile557Val)
NM_001379081.2(FREM1):c.1715A>G (p.Lys572Arg)
NM_001379081.2(FREM1):c.1739-4A>G
NM_001379081.2(FREM1):c.1775T>G (p.Phe592Cys)
NM_001379081.2(FREM1):c.1786A>G (p.Ile596Val) rs1825697515
NM_001379081.2(FREM1):c.1814T>A (p.Ile605Asn)
NM_001379081.2(FREM1):c.1886C>G (p.Ala629Gly)
NM_001379081.2(FREM1):c.1894C>T (p.His632Tyr)
NM_001379081.2(FREM1):c.1912dup (p.Asp638fs)
NM_001379081.2(FREM1):c.1918C>T (p.Leu640Phe)
NM_001379081.2(FREM1):c.1934del (p.Pro645fs)
NM_001379081.2(FREM1):c.1974G>A (p.Val658=)
NM_001379081.2(FREM1):c.1975G>A (p.Ala659Thr)
NM_001379081.2(FREM1):c.1979A>G (p.Tyr660Cys)
NM_001379081.2(FREM1):c.199C>G (p.Pro67Ala)
NM_001379081.2(FREM1):c.2023G>C (p.Asp675His)
NM_001379081.2(FREM1):c.2032C>G (p.Leu678Val)
NM_001379081.2(FREM1):c.2051C>A (p.Thr684Asn)
NM_001379081.2(FREM1):c.2079-1G>T
NM_001379081.2(FREM1):c.2079-8C>G
NM_001379081.2(FREM1):c.2090C>T (p.Ala697Val)
NM_001379081.2(FREM1):c.2097_2100del (p.Lys699fs) rs769407804
NM_001379081.2(FREM1):c.2117T>C (p.Ile706Thr)
NM_001379081.2(FREM1):c.2124A>G (p.Lys708=)
NM_001379081.2(FREM1):c.214G>C (p.Val72Leu)
NM_001379081.2(FREM1):c.215T>C (p.Val72Ala)
NM_001379081.2(FREM1):c.2169+9A>T
NM_001379081.2(FREM1):c.216T>G (p.Val72=)
NM_001379081.2(FREM1):c.2212C>G (p.Gln738Glu) rs182946445
NM_001379081.2(FREM1):c.2212C>T (p.Gln738Ter)
NM_001379081.2(FREM1):c.2218A>G (p.Ile740Val)
NM_001379081.2(FREM1):c.2290A>C (p.Ile764Leu)
NM_001379081.2(FREM1):c.2327A>T (p.Gln776Leu)
NM_001379081.2(FREM1):c.2337+20T>C
NM_001379081.2(FREM1):c.2356A>G (p.Lys786Glu)
NM_001379081.2(FREM1):c.235G>C (p.Val79Leu)
NM_001379081.2(FREM1):c.2361G>A (p.Val787=)
NM_001379081.2(FREM1):c.2371G>A (p.Gly791Ser)
NM_001379081.2(FREM1):c.2408C>T (p.Ser803Phe)
NM_001379081.2(FREM1):c.2451G>A (p.Arg817=)
NM_001379081.2(FREM1):c.2459C>G (p.Pro820Arg)
NM_001379081.2(FREM1):c.2461C>A (p.Leu821Met)
NM_001379081.2(FREM1):c.2464C>T (p.His822Tyr)
NM_001379081.2(FREM1):c.2466C>T (p.His822=)
NM_001379081.2(FREM1):c.2515T>C (p.Ser839Pro)
NM_001379081.2(FREM1):c.252C>G (p.Phe84Leu) rs760898480
NM_001379081.2(FREM1):c.2546+19T>A
NM_001379081.2(FREM1):c.2563A>G (p.Thr855Ala) rs866082192
NM_001379081.2(FREM1):c.2563A>T (p.Thr855Ser)
NM_001379081.2(FREM1):c.2600C>T (p.Thr867Ile)
NM_001379081.2(FREM1):c.2607C>T (p.Gly869=)
NM_001379081.2(FREM1):c.2612A>G (p.Asn871Ser)
NM_001379081.2(FREM1):c.2617G>A (p.Ala873Thr)
NM_001379081.2(FREM1):c.261C>G (p.Asn87Lys)
NM_001379081.2(FREM1):c.2635G>A (p.Val879Ile)
NM_001379081.2(FREM1):c.2640G>T (p.Glu880Asp)
NM_001379081.2(FREM1):c.269A>T (p.Lys90Met)
NM_001379081.2(FREM1):c.277C>T (p.His93Tyr)
NM_001379081.2(FREM1):c.284G>A (p.Gly95Asp)
NM_001379081.2(FREM1):c.2899G>A (p.Glu967Lys)
NM_001379081.2(FREM1):c.2914C>G (p.Pro972Ala)
NM_001379081.2(FREM1):c.2947G>A (p.Asp983Asn)
NM_001379081.2(FREM1):c.2986A>G (p.Asn996Asp)
NM_001379081.2(FREM1):c.2995A>G (p.Asn999Asp)
NM_001379081.2(FREM1):c.2T>C (p.Met1Thr) rs1464587064
NM_001379081.2(FREM1):c.3010C>T (p.Leu1004Phe)
NM_001379081.2(FREM1):c.3020C>T (p.Ser1007Phe)
NM_001379081.2(FREM1):c.3047C>T (p.Thr1016Met)
NM_001379081.2(FREM1):c.3080T>C (p.Ile1027Thr)
NM_001379081.2(FREM1):c.3089-3dup
NM_001379081.2(FREM1):c.3089G>A (p.Gly1030Asp)
NM_001379081.2(FREM1):c.3160G>A (p.Asp1054Asn)
NM_001379081.2(FREM1):c.3161A>C (p.Asp1054Ala)
NM_001379081.2(FREM1):c.3164C>G (p.Thr1055Ser)
NM_001379081.2(FREM1):c.3191T>C (p.Leu1064Ser)
NM_001379081.2(FREM1):c.3228A>G (p.Ile1076Met)
NM_001379081.2(FREM1):c.3274+1G>A
NM_001379081.2(FREM1):c.329+5G>A
NM_001379081.2(FREM1):c.3300C>A (p.Asn1100Lys) rs373880710
NM_001379081.2(FREM1):c.3301G>A (p.Ala1101Thr)
NM_001379081.2(FREM1):c.3301G>T (p.Ala1101Ser)
NM_001379081.2(FREM1):c.3317A>C (p.Tyr1106Ser)
NM_001379081.2(FREM1):c.3324G>A (p.Gln1108=)
NM_001379081.2(FREM1):c.3355G>T (p.Asp1119Tyr) rs753814072
NM_001379081.2(FREM1):c.3365C>T (p.Thr1122Met)
NM_001379081.2(FREM1):c.3366G>A (p.Thr1122=)
NM_001379081.2(FREM1):c.3376A>G (p.Thr1126Ala)
NM_001379081.2(FREM1):c.3385A>G (p.Lys1129Glu)
NM_001379081.2(FREM1):c.3401A>G (p.Glu1134Gly)
NM_001379081.2(FREM1):c.3420A>G (p.Ile1140Met)
NM_001379081.2(FREM1):c.3437A>G (p.Asp1146Gly)
NM_001379081.2(FREM1):c.3446C>T (p.Pro1149Leu)
NM_001379081.2(FREM1):c.3454G>A (p.Val1152Ile)
NM_001379081.2(FREM1):c.3472-9C>G
NM_001379081.2(FREM1):c.347C>G (p.Thr116Ser) rs747949999
NM_001379081.2(FREM1):c.3480G>A (p.Glu1160=)
NM_001379081.2(FREM1):c.34G>T (p.Val12Leu)
NM_001379081.2(FREM1):c.3513C>G (p.Ile1171Met) rs774280190
NM_001379081.2(FREM1):c.3515G>A (p.Ser1172Asn)
NM_001379081.2(FREM1):c.3517G>T (p.Ala1173Ser) rs564039071
NM_001379081.2(FREM1):c.3518C>T (p.Ala1173Val)
NM_001379081.2(FREM1):c.3554T>C (p.Phe1185Ser)
NM_001379081.2(FREM1):c.3565C>G (p.Gln1189Glu)
NM_001379081.2(FREM1):c.356A>C (p.Glu119Ala) rs2538897291
NM_001379081.2(FREM1):c.3578A>G (p.His1193Arg)
NM_001379081.2(FREM1):c.357A>C (p.Glu119Asp)
NM_001379081.2(FREM1):c.3622A>T (p.Asn1208Tyr)
NM_001379081.2(FREM1):c.3651A>T (p.Lys1217Asn)
NM_001379081.2(FREM1):c.3653A>G (p.His1218Arg) rs777229782
NM_001379081.2(FREM1):c.3658C>G (p.Pro1220Ala)
NM_001379081.2(FREM1):c.3685C>T (p.Leu1229Phe)
NM_001379081.2(FREM1):c.3689A>G (p.Lys1230Arg)
NM_001379081.2(FREM1):c.3694+6G>C rs749794055
NM_001379081.2(FREM1):c.3698T>G (p.Met1233Arg)
NM_001379081.2(FREM1):c.3702G>T (p.Arg1234Ser)
NM_001379081.2(FREM1):c.3722A>G (p.Asp1241Gly)
NM_001379081.2(FREM1):c.3737C>T (p.Ala1246Val)
NM_001379081.2(FREM1):c.3746T>G (p.Phe1249Cys)
NM_001379081.2(FREM1):c.3747dup (p.Thr1250fs)
NM_001379081.2(FREM1):c.3748A>G (p.Thr1250Ala)
NM_001379081.2(FREM1):c.3750A>C (p.Thr1250=)
NM_001379081.2(FREM1):c.3755A>G (p.Gln1252Arg)
NM_001379081.2(FREM1):c.3758T>A (p.Leu1253Ter)
NM_001379081.2(FREM1):c.3764A>T (p.Asp1255Val)
NM_001379081.2(FREM1):c.3771A>T (p.Lys1257Asn)
NM_001379081.2(FREM1):c.3792T>G (p.Ile1264Met)
NM_001379081.2(FREM1):c.3811G>A (p.Val1271Ile)
NM_001379081.2(FREM1):c.3829A>G (p.Met1277Val)
NM_001379081.2(FREM1):c.3836G>A (p.Ser1279Asn)
NM_001379081.2(FREM1):c.3872C>T (p.Thr1291Ile)
NM_001379081.2(FREM1):c.3875G>T (p.Arg1292Leu) rs41265308
NM_001379081.2(FREM1):c.3892A>T (p.Ile1298Phe) rs368536960
NM_001379081.2(FREM1):c.3900A>T (p.Ser1300=)
NM_001379081.2(FREM1):c.3926AGA[1] (p.Lys1310del) rs538512251
NM_001379081.2(FREM1):c.3975G>T (p.Gln1325His)
NM_001379081.2(FREM1):c.3981+9C>G
NM_001379081.2(FREM1):c.3982-12G>A
NM_001379081.2(FREM1):c.3982-12G>T
NM_001379081.2(FREM1):c.3986G>T (p.Gly1329Val)
NM_001379081.2(FREM1):c.4027C>T (p.Gln1343Ter)
NM_001379081.2(FREM1):c.4055G>C (p.Arg1352Thr) rs547296209
NM_001379081.2(FREM1):c.4090C>A (p.Gln1364Lys)
NM_001379081.2(FREM1):c.4109A>G (p.Tyr1370Cys)
NM_001379081.2(FREM1):c.4133C>T (p.Ser1378Phe)
NM_001379081.2(FREM1):c.4177+4A>T
NM_001379081.2(FREM1):c.4178-5T>G
NM_001379081.2(FREM1):c.4178-8dup
NM_001379081.2(FREM1):c.4183A>G (p.Ile1395Val)
NM_001379081.2(FREM1):c.4200del (p.Lys1400fs)
NM_001379081.2(FREM1):c.4210G>T (p.Val1404Leu) rs2540104199
NM_001379081.2(FREM1):c.4244C>T (p.Thr1415Ile) rs75677527
NM_001379081.2(FREM1):c.4318G>A (p.Gly1440Ser) rs121912610
NM_001379081.2(FREM1):c.4319G>A (p.Gly1440Asp) rs1850105274
NM_001379081.2(FREM1):c.4324A>G (p.Ile1442Val)
NM_001379081.2(FREM1):c.4327G>A (p.Glu1443Lys)
NM_001379081.2(FREM1):c.4345G>A (p.Gly1449Arg)
NM_001379081.2(FREM1):c.4407C>G (p.His1469Gln)
NM_001379081.2(FREM1):c.4430G>A (p.Ser1477Asn)
NM_001379081.2(FREM1):c.4465C>T (p.Arg1489Trp)
NM_001379081.2(FREM1):c.4489A>G (p.Ile1497Val)
NM_001379081.2(FREM1):c.4500G>A (p.Glu1500=) rs561131255
NM_001379081.2(FREM1):c.4541G>C (p.Gly1514Ala)
NM_001379081.2(FREM1):c.4552del (p.Ala1518fs)
NM_001379081.2(FREM1):c.4563C>A (p.Ala1521=) rs60091943
NM_001379081.2(FREM1):c.458C>T (p.Ala153Val)
NM_001379081.2(FREM1):c.4612C>G (p.Pro1538Ala)
NM_001379081.2(FREM1):c.4634T>G (p.Leu1545Arg)
NM_001379081.2(FREM1):c.4638G>C (p.Leu1546Phe)
NM_001379081.2(FREM1):c.4639G>C (p.Val1547Leu)
NM_001379081.2(FREM1):c.4707G>T (p.Gln1569His)
NM_001379081.2(FREM1):c.4712A>G (p.Asp1571Gly)
NM_001379081.2(FREM1):c.472C>A (p.Leu158Met)
NM_001379081.2(FREM1):c.4730T>C (p.Val1577Ala)
NM_001379081.2(FREM1):c.4820G>A (p.Gly1607Glu) rs369791896
NM_001379081.2(FREM1):c.483C>T (p.Phe161=) rs540878376
NM_001379081.2(FREM1):c.484G>A (p.Asp162Asn)
NM_001379081.2(FREM1):c.484G>T (p.Asp162Tyr)
NM_001379081.2(FREM1):c.4857+1G>A
NM_001379081.2(FREM1):c.4858-20T>A
NM_001379081.2(FREM1):c.4870G>T (p.Asp1624Tyr)
NM_001379081.2(FREM1):c.4872C>G (p.Asp1624Glu)
NM_001379081.2(FREM1):c.4899G>C (p.Leu1633Phe)
NM_001379081.2(FREM1):c.4912C>G (p.Gln1638Glu)
NM_001379081.2(FREM1):c.491A>G (p.Asp164Gly)
NM_001379081.2(FREM1):c.4943G>A (p.Gly1648Glu)
NM_001379081.2(FREM1):c.4949A>C (p.Tyr1650Ser)
NM_001379081.2(FREM1):c.495G>C (p.Arg165Ser)
NM_001379081.2(FREM1):c.4961G>A (p.Arg1654His)
NM_001379081.2(FREM1):c.4972G>T (p.Ala1658Ser)
NM_001379081.2(FREM1):c.5006T>C (p.Ile1669Thr)
NM_001379081.2(FREM1):c.500C>G (p.Ala167Gly)
NM_001379081.2(FREM1):c.5057C>T (p.Thr1686Ile)
NM_001379081.2(FREM1):c.5059+6G>A
NM_001379081.2(FREM1):c.506T>C (p.Leu169Pro)
NM_001379081.2(FREM1):c.508G>T (p.Glu170Ter)
NM_001379081.2(FREM1):c.5131T>C (p.Ser1711Pro)
NM_001379081.2(FREM1):c.5152A>G (p.Thr1718Ala)
NM_001379081.2(FREM1):c.516C>T (p.Thr172=) rs41265310
NM_001379081.2(FREM1):c.5184G>T (p.Gly1728=)
NM_001379081.2(FREM1):c.5192C>T (p.Ala1731Val)
NM_001379081.2(FREM1):c.5204+8C>G rs376644135
NM_001379081.2(FREM1):c.5205-13C>G
NM_001379081.2(FREM1):c.5205-1G>A
NM_001379081.2(FREM1):c.5205-1G>T rs1064797351
NM_001379081.2(FREM1):c.5215A>G (p.Lys1739Glu)
NM_001379081.2(FREM1):c.5220G>T (p.Trp1740Cys) rs995343347
NM_001379081.2(FREM1):c.5249A>G (p.Tyr1750Cys) rs762799389
NM_001379081.2(FREM1):c.5262G>T (p.Glu1754Asp)
NM_001379081.2(FREM1):c.5270G>T (p.Gly1757Val)
NM_001379081.2(FREM1):c.5278C>T (p.Pro1760Ser)
NM_001379081.2(FREM1):c.5316G>T (p.Ser1772=) rs775863172
NM_001379081.2(FREM1):c.5335-11del rs140882884
NM_001379081.2(FREM1):c.5392A>G (p.Ile1798Val)
NM_001379081.2(FREM1):c.5397G>A (p.Gln1799=)
NM_001379081.2(FREM1):c.5417C>T (p.Thr1806Ile)
NM_001379081.2(FREM1):c.5462A>T (p.Asp1821Val)
NM_001379081.2(FREM1):c.5501A>G (p.Asn1834Ser)
NM_001379081.2(FREM1):c.5513G>A (p.Gly1838Asp)
NM_001379081.2(FREM1):c.5554G>A (p.Gly1852Arg)
NM_001379081.2(FREM1):c.55G>C (p.Ala19Pro)
NM_001379081.2(FREM1):c.5629C>A (p.Leu1877Met)
NM_001379081.2(FREM1):c.5639G>T (p.Gly1880Val)
NM_001379081.2(FREM1):c.5651C>A (p.Ser1884Tyr)
NM_001379081.2(FREM1):c.5680AGA[1] (p.Arg1895del)
NM_001379081.2(FREM1):c.56C>T (p.Ala19Val)
NM_001379081.2(FREM1):c.5708T>A (p.Leu1903Gln)
NM_001379081.2(FREM1):c.5713G>A (p.Val1905Ile)
NM_001379081.2(FREM1):c.5728A>G (p.Thr1910Ala)
NM_001379081.2(FREM1):c.5738G>A (p.Gly1913Asp)
NM_001379081.2(FREM1):c.5754T>G (p.Asp1918Glu)
NM_001379081.2(FREM1):c.5761C>T (p.Gln1921Ter)
NM_001379081.2(FREM1):c.5764A>G (p.Arg1922Gly)
NM_001379081.2(FREM1):c.5840A>G (p.Tyr1947Cys)
NM_001379081.2(FREM1):c.5844+3A>C
NM_001379081.2(FREM1):c.5845-2A>C
NM_001379081.2(FREM1):c.5869C>A (p.Leu1957Met)
NM_001379081.2(FREM1):c.5887C>G (p.Pro1963Ala)
NM_001379081.2(FREM1):c.5890A>C (p.Thr1964Pro)
NM_001379081.2(FREM1):c.5925_5928del (p.Gln1976fs)
NM_001379081.2(FREM1):c.593C>G (p.Pro198Arg)
NM_001379081.2(FREM1):c.5956C>A (p.Leu1986Met)
NM_001379081.2(FREM1):c.595C>T (p.Arg199Cys)
NM_001379081.2(FREM1):c.5976G>A (p.Val1992=)
NM_001379081.2(FREM1):c.6059T>C (p.Leu2020Pro)
NM_001379081.2(FREM1):c.6088C>A (p.Leu2030Met)
NM_001379081.2(FREM1):c.6105_6121delinsA (p.Ile2036fs)
NM_001379081.2(FREM1):c.6109G>A (p.Ala2037Thr) rs201502030
NM_001379081.2(FREM1):c.6122G>A (p.Trp2041Ter)
NM_001379081.2(FREM1):c.6139-2A>C
NM_001379081.2(FREM1):c.6139G>A (p.Asp2047Asn)
NM_001379081.2(FREM1):c.6158G>C (p.Cys2053Ser)
NM_001379081.2(FREM1):c.61G>A (p.Ala21Thr)
NM_001379081.2(FREM1):c.6204C>G (p.Ile2068Met)
NM_001379081.2(FREM1):c.6218G>C (p.Gly2073Ala)
NM_001379081.2(FREM1):c.6251A>C (p.Glu2084Ala)
NM_001379081.2(FREM1):c.6291G>T (p.Gln2097His)
NM_001379081.2(FREM1):c.6298C>T (p.Arg2100Trp) rs200489692
NM_001379081.2(FREM1):c.631+1G>A
NM_001379081.2(FREM1):c.6310G>A (p.Asp2104Asn)
NM_001379081.2(FREM1):c.632-7A>C
NM_001379081.2(FREM1):c.6336G>T (p.Trp2112Cys)
NM_001379081.2(FREM1):c.6341G>A (p.Gly2114Asp)
NM_001379081.2(FREM1):c.6356T>G (p.Val2119Gly)
NM_001379081.2(FREM1):c.6373G>T (p.Glu2125Ter)
NM_001379081.2(FREM1):c.6382G>A (p.Gly2128Ser)
NM_001379081.2(FREM1):c.6383G>A (p.Gly2128Asp)
NM_001379081.2(FREM1):c.6383G>C (p.Gly2128Ala)
NM_001379081.2(FREM1):c.6404C>G (p.Thr2135Ser)
NM_001379081.2(FREM1):c.6406A>G (p.Asn2136Asp)
NM_001379081.2(FREM1):c.6413G>A (p.Arg2138Lys)
NM_001379081.2(FREM1):c.6430C>G (p.Arg2144Gly)
NM_001379081.2(FREM1):c.6454G>A (p.Val2152Ile) rs886063764
NM_001379081.2(FREM1):c.6469C>G (p.Gln2157Glu)
NM_001379081.2(FREM1):c.6473G>A (p.Gly2158Glu)
NM_001379081.2(FREM1):c.6481del (p.Gln2161fs)
NM_001379081.2(FREM1):c.655C>T (p.Pro219Ser)
NM_001379081.2(FREM1):c.677G>C (p.Gly226Ala)
NM_001379081.2(FREM1):c.727A>T (p.Met243Leu)
NM_001379081.2(FREM1):c.741T>G (p.Tyr247Ter)
NM_001379081.2(FREM1):c.747T>A (p.His249Gln)
NM_001379081.2(FREM1):c.790C>G (p.Leu264Val)
NM_001379081.2(FREM1):c.856A>T (p.Ile286Phe)
NM_001379081.2(FREM1):c.870_876del (p.Pro291fs) rs2538704291
NM_001379081.2(FREM1):c.899T>C (p.Met300Thr)
NM_001379081.2(FREM1):c.922G>C (p.Asp308His) rs764642854
NM_001379081.2(FREM1):c.983C>T (p.Pro328Leu)

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