ClinVar Miner

List of variants studied for spondylocarpotarsal synostosis syndrome

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001457.4(FLNB):c.292+8C>A rs9831243 0.01775
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg) rs62621996 0.00994
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999 0.00943
NM_001457.4(FLNB):c.5426-10G>A rs183917041 0.00264
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_001457.4(FLNB):c.808A>G (p.Met270Val) rs145036794 0.00096
NM_001457.4(FLNB):c.4730C>T (p.Ala1577Val) rs148101195 0.00043
NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp) rs773943113 0.00022
NM_001457.4(FLNB):c.3583G>A (p.Val1195Met) rs200993986 0.00021
NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu) rs200677473 0.00021
NM_001457.4(FLNB):c.4986C>T (p.Ala1662=) rs200905679 0.00017
NM_001457.4(FLNB):c.7036C>T (p.Arg2346Cys) rs149638325 0.00014
NM_001457.4(FLNB):c.6028C>T (p.Arg2010Cys) rs138034708 0.00013
NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys) rs368965386 0.00004
NM_001457.4(FLNB):c.3724+4G>C rs993620203 0.00003
NM_001457.4(FLNB):c.2523T>G (p.Pro841=) rs376893941 0.00002
NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile) rs200947960 0.00002
NM_001457.4(FLNB):c.1243C>T (p.Arg415Ter) rs775714153 0.00001
NM_001457.4(FLNB):c.1679A>G (p.His560Arg) rs749965480 0.00001
NM_001457.4(FLNB):c.2452C>T (p.Arg818Ter) rs80356519 0.00001
NM_001457.4(FLNB):c.3350A>G (p.His1117Arg) rs779765790 0.00001
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter) rs80356520 0.00001
NM_001457.4(FLNB):c.4826C>T (p.Thr1609Ile) rs761698437 0.00001
NM_001457.4(FLNB):c.871G>A (p.Val291Met) rs751747906 0.00001
NM_002470.4(MYH3):c.1581+1G>A rs1350968647 0.00001
NM_002470.4(MYH3):c.2419C>T (p.Gln807Ter) rs754050324 0.00001
NM_001457.4(FLNB):c.1147G>A (p.Gly383Arg)
NM_001457.4(FLNB):c.1204del (p.Val402fs) rs2107062364
NM_001457.4(FLNB):c.1346-1358_1941+403del
NM_001457.4(FLNB):c.1429delinsCT (p.Val477fs) rs2107082636
NM_001457.4(FLNB):c.1493del (p.Glu498fs) rs2107092260
NM_001457.4(FLNB):c.1592dup (p.His532fs) rs746105983
NM_001457.4(FLNB):c.1652A>T (p.Lys551Ile)
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter) rs80356517
NM_001457.4(FLNB):c.2195A>G (p.Tyr732Cys)
NM_001457.4(FLNB):c.219_222dup (p.Met75fs)
NM_001457.4(FLNB):c.2471T>C (p.Leu824Pro) rs2107121791
NM_001457.4(FLNB):c.2772del (p.Thr923_Tyr924insTer)
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys) rs139875974
NM_001457.4(FLNB):c.2774G>A (p.Gly925Asp)
NM_001457.4(FLNB):c.2892C>G (p.Phe964Leu)
NM_001457.4(FLNB):c.2996G>A (p.Arg999Gln) rs755928543
NM_001457.4(FLNB):c.3064G>A (p.Gly1022Arg)
NM_001457.4(FLNB):c.3127-354_4223-1836del
NM_001457.4(FLNB):c.3239C>T (p.Pro1080Leu)
NM_001457.4(FLNB):c.3282_3283insAGCA (p.Cys1095fs)
NM_001457.4(FLNB):c.3446_3455del (p.Gly1149fs) rs1553701033
NM_001457.4(FLNB):c.3535G>T (p.Glu1179Ter)
NM_001457.4(FLNB):c.4066G>A (p.Ala1356Thr) rs764743602
NM_001457.4(FLNB):c.4391G>C (p.Gly1464Ala) rs886044175
NM_001457.4(FLNB):c.4768_4771del (p.Ile1590fs) rs1553703909
NM_001457.4(FLNB):c.4813C>T (p.Arg1605Cys)
NM_001457.4(FLNB):c.5025del (p.Tyr1676fs)
NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser) rs80356503
NM_001457.4(FLNB):c.5548G>T (p.Gly1850Ter) rs121908898
NM_001457.4(FLNB):c.5555-5_5561del rs1575457582
NM_001457.4(FLNB):c.5842C>T (p.Arg1948Ter) rs775301566
NM_001457.4(FLNB):c.6010C>T (p.Arg2004Ter) rs121908897
NM_001457.4(FLNB):c.6408del (p.Ser2137fs) rs80356521
NM_001457.4(FLNB):c.6866G>A (p.Arg2289His) rs1033252725
NM_001457.4(FLNB):c.6889-2A>G
NM_001457.4(FLNB):c.698del (p.Tyr233fs)
NM_001457.4(FLNB):c.7029T>G (p.Tyr2343Ter) rs80356518
NM_001457.4(FLNB):c.7351C>G (p.Leu2451Val) rs2107340030
NM_001457.4(FLNB):c.7417+2T>A
NM_002470.3(MYH3):c.[721A>G;724_725delTCinsTT]
NM_002470.4(MYH3):c.1411-391_1411-219del rs1567558314
NM_002470.4(MYH3):c.141T>G (p.Tyr47Ter) rs1567564042
NM_002470.4(MYH3):c.1934T>G (p.Phe645Cys) rs1567557697
NM_002470.4(MYH3):c.1986_1990del (p.Asn662fs) rs771300756
NM_002470.4(MYH3):c.2699del (p.Leu900fs) rs1567556169
NM_002470.4(MYH3):c.4496_4497del (p.Val1499fs)
NM_002470.4(MYH3):c.4647+1G>A rs1567552713
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del) rs1555527166

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