ClinVar Miner

List of variants studied for Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita by Cirak Lab, University Hospital Cologne

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_005807.6(PRG4):c.3569G>A (p.Gly1190Asp) rs150072104 0.00213
NM_015378.4(VPS13D):c.4243G>A (p.Asp1415Asn) rs79282181 0.00112
NM_001170738.2(IQSEC3):c.3546G>A (p.Val1182=) rs189467547 0.00081
NM_015378.4(VPS13D):c.518G>A (p.Gly173Asp) rs185443968 0.00031
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) rs117134265 0.00019
NM_004560.4(ROR2):c.808A>G (p.Ile270Val) rs145631389 0.00017
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn) rs200758704 0.00014
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr) rs749912939 0.00007
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys) rs147954907 0.00006
NM_001083614.2(EARS2):c.1277_1279dup (p.Thr426_Arg427insPro) rs753414156 0.00005
NM_139284.3(LGI4):c.504G>C (p.Trp168Cys) rs201728190 0.00005
NM_001142782.2(MAGI3):c.2565A>T (p.Gln855His) rs753459456 0.00002
NM_001376.5(DYNC1H1):c.10357G>A (p.Val3453Ile) rs778115137 0.00002
NM_001378183.1(PIEZO2):c.911A>G (p.Tyr304Cys) rs773449118 0.00002
NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu) rs750803388 0.00002
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe) rs786205271 0.00001
NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg) rs755496104 0.00001
NM_001032283.3(TMPO):c.993G>A (p.Val331=) rs770195100 0.00001
NM_001036.6(RYR3):c.13814A>G (p.Asp4605Gly) rs1466702657 0.00001
NM_001198800.3(ASCC1):c.626+1G>A rs747595523 0.00001
NM_001376.5(DYNC1H1):c.12600G>T (p.Gly4200=) rs1595633027 0.00001
NM_001384125.1(BLTP1):c.12154T>C (p.Tyr4052His) rs777407076 0.00001
NM_001384125.1(BLTP1):c.3926G>A (p.Arg1309Gln) rs1460624416 0.00001
NM_006486.3(FBLN1):c.1991G>A (p.Arg664Gln) rs770004900 0.00001
NM_014795.4(ZEB2):c.444T>G (p.Phe148Leu) rs1434660770 0.00001
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter) rs774338373 0.00001
NM_024532.5(SPAG16):c.1896A>C (p.Ter632Cys) rs1309397122 0.00001
NM_052867.4(NALCN):c.191A>G (p.Tyr64Cys) rs762389271 0.00001
NM_133637.3(DQX1):c.769C>T (p.Arg257Trp) rs773689288 0.00001
NM_139284.3(LGI4):c.1031T>A (p.Leu344Gln) rs1201430967 0.00001
NM_000262.3(NAGA):c.917A>T (p.Asn306Ile) rs754396207
NM_000334.4(SCN4A):c.2018T>C (p.Leu673Pro) rs1597978607
NM_000540.3(RYR1):c.10018G>A (p.Val3340Met) rs1600892115
NM_000540.3(RYR1):c.13998G>A (p.Lys4666=) rs1599649479
NM_000540.3(RYR1):c.14647-15_14649del rs1599673988
NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp) rs1600682739
NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs) rs1568454672
NM_000540.3(RYR1):c.5618del (p.Glu1873fs) rs1600783776
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro) rs1600822174
NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys) rs1600843056
NM_000751.3(CHRND):c.452G>C (p.Cys151Ser) rs1574630583
NM_001001344.3(ATP2B3):c.197C>T (p.Ser66Leu) rs1603040061
NM_001080.3(ALDH5A1):c.814del (p.Cys272fs) rs1581815207
NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg) rs1057521117
NM_001170738.2(IQSEC3):c.1058T>C (p.Leu353Pro) rs1448451909
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr) rs1592387849
NM_001353803.2(ZNF875):c.1452del (p.Arg485fs) rs781191343
NM_001378183.1(PIEZO2):c.1384C>T (p.Arg462Ter) rs1568069621
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_003632.3(CNTNAP1):c.1906G>A (p.Val636Met) rs1597807901
NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter) rs1597802927
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu) rs375218091
NM_005055.5(RAPSN):c.794C>T (p.Ala265Val) rs1040279711
NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys) rs1574645121
NM_006836.2(GCN1):c.3581C>A (p.Ala1194Glu) rs758240571
NM_014044.7(UNC50):c.287C>G (p.Thr96Ser) rs1575228682
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038
NM_018136.5(ASPM):c.3082+1G>C rs886041709
NM_022139.4(GFRA4):c.244G>C (p.Ala82Pro) rs1600184605
NM_024532.5(SPAG16):c.1423_1426del (p.Tyr475fs) rs535028567
NM_052867.4(NALCN):c.1783G>T (p.Val595Phe) rs1594368753
NM_052867.4(NALCN):c.950T>G (p.Phe317Cys) rs1594616249
NM_152328.5(ADSS1):c.741del (p.Lys248fs) rs769542442
NM_153026.3(PRICKLE1):c.1682A>T (p.Tyr561Phe) rs1593100937
NM_177924.5(ASAH1):c.491G>T (p.Gly164Val) rs1588980220

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