ClinVar Miner

List of variants reported as likely pathogenic for Muscular Diseases

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Total variants: 14
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HGVS dbSNP
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158
NM_000257.4(MYH7):c.4886T>C (p.Leu1629Pro) rs797045730
NM_000540.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_000540.2(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup) rs797045933
NM_000540.2(RYR1):c.8463G>A (p.Trp2821Ter) rs1057518773
NM_001267550.2(TTN):c.35265dup (p.Pro11756fs) rs1198364572
NM_001849.3(COL6A2):c.2489G>A (p.Arg830Gln) rs139552940
NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val) rs774521989
NM_001849.3(COL6A2):c.892G>A (p.Gly298Arg) rs797045478
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) rs104894294
NM_152263.4(TPM3):c.734G>T (p.Arg245Ile) rs797046047
NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile) rs375014127
NM_213599.2(ANO5):c.2029+2dup rs1057518855

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