ClinVar Miner

List of variants in gene FREM1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 123
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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.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.4727A>T (p.Asn1576Ile) rs2101770 0.00620
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.2274C>A (p.Gly758=) rs12235714 0.00497
NM_001379081.2(FREM1):c.795C>A (p.Asp265Glu) rs140222993 0.00128
NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys) rs61745612 0.00087
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser) rs76714828 0.00064
NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe) rs377466529 0.00035
NM_001379081.2(FREM1):c.70A>G (p.Thr24Ala) rs372699811 0.00026
NM_001379081.2(FREM1):c.2896G>A (p.Gly966Ser) rs373345277 0.00019
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met) rs201617511 0.00011
NM_001379081.2(FREM1):c.2420C>G (p.Thr807Ser) rs768631811 0.00009
NM_001379081.2(FREM1):c.454C>T (p.Gln152Ter) rs774044026 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.4427C>G (p.Ser1476Cys) rs1281430978 0.00001
NM_001370058.2(FREM1):c.1596+455del
NM_001379081.2(FREM1):c.-135G>C rs12238629
NM_001379081.2(FREM1):c.1173CTT[2] (p.Phe394del)
NM_001379081.2(FREM1):c.1463G>A (p.Ser488Asn)
NM_001379081.2(FREM1):c.1465G>A (p.Asp489Asn)
NM_001379081.2(FREM1):c.1881+58G>C rs1552896
NM_001379081.2(FREM1):c.2337+192A>G rs12342625
NM_001379081.2(FREM1):c.3088+156C>T rs79215121
NM_001379081.2(FREM1):c.3317A>G (p.Tyr1106Cys)
NM_001379081.2(FREM1):c.3535C>A (p.Pro1179Thr)
NM_001379081.2(FREM1):c.3598G>A (p.Gly1200Arg)
NM_001379081.2(FREM1):c.3839+197G>C rs117899256
NM_001379081.2(FREM1):c.3839+71GT[7] rs144830277
NM_001379081.2(FREM1):c.3910G>T (p.Glu1304Ter) rs1131691724
NM_001379081.2(FREM1):c.3925del (p.Glu1309fs) rs773469926
NM_001379081.2(FREM1):c.4244C>G (p.Thr1415Ser) rs75677527
NM_001379081.2(FREM1):c.4312C>T (p.Arg1438Ter)
NM_001379081.2(FREM1):c.4639G>T (p.Val1547Phe)
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.5335-11dup rs140882884
NM_001379081.2(FREM1):c.5335-8dup rs201316684
NM_001379081.2(FREM1):c.5407+45dup rs57793294
NM_001379081.2(FREM1):c.5594A>T (p.Lys1865Met)
NM_001379081.2(FREM1):c.6254+45A>T rs41265300
NM_001379081.2(FREM1):c.987A>T (p.Lys329Asn)

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