ClinVar Miner

List of variants reported as pathogenic for Muscular dystrophy, congenital, with rapid progression

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005868.6(BET1):c.134del (p.Ala45fs)	rs541754296	0.00011
NM_005868.6(BET1):c.152T>G (p.Ile51Ser)	rs372513869	0.00001
NM_005868.6(BET1):c.202G>C (p.Asp68His)	rs1562806584

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