List of variants reported as pathogenic for Malignant hyperthermia, susceptibility to, 1 by ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
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.6617C>T (p.Thr2206Met)	rs118192177	0.00004
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)	rs193922764	0.00002
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	rs193922803	0.00002
NM_000540.3(RYR1):c.103T>C (p.Cys35Arg)	rs193922747	0.00001
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)	rs193922768	0.00001
NM_000540.3(RYR1):c.529C>T (p.Arg177Cys)	rs193922757	0.00001
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)	rs118192175	0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)	rs112563513	0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)	rs193922816	0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	rs118192122	0.00001
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)	rs121918592
NM_000540.3(RYR1):c.1021G>C (p.Gly341Arg)	rs121918592
NM_000540.3(RYR1):c.11969G>T (p.Gly3990Val)	rs193922843
NM_000540.3(RYR1):c.1202G>A (p.Arg401His)	rs193922766
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	rs193922868
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile)	rs121918595
NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser)	rs118192162
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)	rs193922772
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)	rs118192161
NM_000540.3(RYR1):c.488G>T (p.Arg163Leu)	rs193922753
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)	rs118192163
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	rs118192176
NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr)	rs193922802
NM_000540.3(RYR1):c.7124G>C (p.Gly2375Ala)	rs193922807
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	rs28933396
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg)	rs1801086

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