List of variants reported as likely pathogenic for Distal arthrogryposis

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_013292.5(MYL11):c.469T>C (p.Cys157Arg)	rs748809300	0.00002
NM_000540.3(RYR1):c.1990G>C (p.Glu664Gln)	rs1555769818
NM_000540.3(RYR1):c.9850T>C (p.Trp3284Arg)	rs1555788577
NM_001031710.3(KLHL7):c.618+1G>A	rs1554289078
NM_002465.4(MYBPC1):c.1678G>C (p.Val560Leu)	rs1555242493
NM_002470.4(MYH3):c.2512A>C (p.Lys838Gln)	rs2074256645
NM_002470.4(MYH3):c.850_851del (p.Tyr284fs)	rs2142413600
NM_013292.5(MYL11):c.470G>T (p.Cys157Phe)	rs756765686
NM_013292.5(MYL11):c.487G>A (p.Gly163Ser)	rs2049768364
NM_013292.5(MYL11):c.98C>T (p.Ala33Val)	rs2049733161

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