ClinVar Miner

List of variants studied for muscular channelopathy by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00085
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000540.3(RYR1):c.7204C>T (p.Arg2402Trp) rs575780192 0.00004
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) rs762754992 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_080704.4(TRPV1):c.2165G>A (p.Arg722His) rs771123129 0.00002
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212 0.00001
NM_000334.4(SCN4A):c.5285G>A (p.Gly1762Glu) rs1328990008 0.00001
NM_000334.4(SCN4A):c.665G>A (p.Arg222Gln) rs865887222 0.00001
NM_000540.3(RYR1):c.12121C>T (p.Arg4041Trp) rs144685735 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg) rs146497999
NM_000083.3(CLCN1):c.502C>G (p.Pro168Ala)
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.11132C>T (p.Thr3711Met) rs375915752
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del) rs1238215145
NM_000540.3(RYR1):c.12700G>C (p.Val4234Leu) rs193922852
NM_000540.3(RYR1):c.12842_12859del (p.Gly4281_Ala4286del)
NM_000540.3(RYR1):c.13054G>C (p.Ala4352Pro)
NM_000540.3(RYR1):c.14497C>T (p.His4833Tyr) rs193922876
NM_000540.3(RYR1):c.640A>G (p.Thr214Ala) rs769650157
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr) rs193922810
NM_000540.3(RYR1):c.8054C>T (p.Ser2685Phe) rs781126470
NM_000540.3(RYR1):c.957+5_957+29del rs794726982

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