ClinVar Miner

List of variants in gene RYR1 reported as likely pathogenic for RYR1-related myopathy

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_000540.3(RYR1):c.3178+587A>G rs556749534 0.00004
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.46-1G>A rs1238479593 0.00001
NM_000540.3(RYR1):c.798C>T (p.Ile266=) rs764527957 0.00001
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter) rs1374378105 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu) rs758210285 0.00001
NM_000540.2(RYR1):c.958_960del rs1064794313
NM_000540.3(RYR1):c.10171G>T (p.Glu3391Ter) rs1216966090
NM_000540.3(RYR1):c.1202G>A (p.Arg401His) rs193922766
NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser) rs1568593922
NM_000540.3(RYR1):c.14437C>T (p.His4813Tyr) rs2145895177
NM_000540.3(RYR1):c.14488T>C (p.Ser4830Pro) rs1568604535
NM_000540.3(RYR1):c.14504G>A (p.Gly4835Glu)
NM_000540.3(RYR1):c.14650T>C (p.Tyr4884His) rs2145912840
NM_000540.3(RYR1):c.14690G>A (p.Gly4897Asp) rs118192148
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14758_14778dup (p.Ile4926_Val4927insThrPhePhePhePheValIle) rs2514773543
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.3(RYR1):c.2361-1G>A rs113379223
NM_000540.3(RYR1):c.2648T>C (p.Leu883Pro) rs369665716
NM_000540.3(RYR1):c.2682G>A (p.Pro894=) rs919322708
NM_000540.3(RYR1):c.2792T>C (p.Leu931Pro) rs1600706153
NM_000540.3(RYR1):c.345G>A (p.Met115Ile) rs2513971656
NM_000540.3(RYR1):c.6800dup (p.Met2267fs) rs2514294079
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His) rs118192121
NM_000540.3(RYR1):c.7084G>A (p.Glu2362Lys) rs762401851
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293

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