ClinVar Miner

List of variants reported as likely pathogenic for Fetal akinesia sequence; Arthrogryposis multiplex congenita

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Total variants: 33
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HGVS dbSNP
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593
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.1835C>A (p.Ala612Asp) rs1600682739
NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg) rs755496104
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_001001344.2(ATP2B3):c.197C>T (p.Ser66Leu) rs1603040061
NM_001042723.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266
NM_001080.3(ALDH5A1):c.814del (p.Cys272fs) rs1581815207
NM_001083614.2(EARS2):c.1277_1279dup (p.Arg427_Pro428insPro) rs753414156
NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr) rs749912939
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr) rs1592387849
NM_003632.3(CNTNAP1):c.1906G>A (p.Val636Met) rs1597807901
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) rs117134265
NM_004560.4(ROR2):c.808A>G (p.Ile270Val) rs145631389
NM_005055.5(RAPSN):c.794C>T (p.Ala265Val) rs1040279711
NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys) rs1574645121
NM_015312.3(KIAA1109):c.11890T>C (p.Tyr3964His) rs777407076
NM_015312.3(KIAA1109):c.3926G>A (p.Arg1309Gln) rs1460624416
NM_018136.5(ASPM):c.3082+1G>C rs886041709
NM_022068.3(PIEZO2):c.911A>G (p.Tyr304Cys) rs773449118
NM_052867.4(NALCN):c.1783G>T (p.Val595Phe) rs1594368753
NM_052867.4(NALCN):c.191A>G (p.Tyr64Cys) rs762389271
NM_052867.4(NALCN):c.950T>G (p.Phe317Cys) rs1594616249
NM_139284.3(LGI4):c.1031T>A (p.Leu344Gln) rs1201430967
NM_139284.3(LGI4):c.504G>C (p.Trp168Cys) rs201728190
NM_177924.5(ASAH1):c.491G>T (p.Gly164Val) rs1588980220
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn) rs200758704
NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu) rs750803388
NM_198056.2(SCN5A):c.5213C>T (p.Ser1738Phe) rs786205271

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