ClinVar Miner

List of variants studied for muscular channelopathy by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (42):
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ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000540.3(RYR1):c.12283-7C>T rs143861818 0.00206
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322 0.00016
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met) rs200224590 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000540.3(RYR1):c.1841G>A (p.Arg614His) rs193922772 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) rs193922764 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000540.3(RYR1):c.7778G>A (p.Arg2593His) rs751180702 0.00002
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696 0.00001
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter) rs1229066957 0.00001
NM_000334.4(SCN4A):c.3904A>C (p.Lys1302Gln) rs1555601285 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.12747G>C (p.Gln4249His) rs1232214674 0.00001
NM_000540.3(RYR1):c.3679A>G (p.Ile1227Val) rs746166976 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000540.3(RYR1):c.9703A>C (p.Ser3235Arg) rs747488155 0.00001
NM_000069.3(CACNA1S):c.3953+2C>G rs2102560621
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1438C>T (p.Pro480Ser) rs80356695
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val) rs1460714146
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.3475T>C (p.Ser1159Pro)
NM_000334.4(SCN4A):c.402C>A (p.Ser134Arg)
NM_000334.4(SCN4A):c.4369C>T (p.Arg1457Cys) rs1473372899
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu) rs193922766
NM_000540.3(RYR1):c.1421A>T (p.Gln474Leu) rs2145381188
NM_000540.3(RYR1):c.178G>T (p.Asp60Tyr) rs118192160
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) rs193922744
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.3(RYR1):c.7847del (p.Pro2616fs) rs1970255367

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