List of variants reported as pathogenic for arthrogryposis multiplex congenita by Mendelics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter)	rs1595903667	0.00001
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)	rs753324947
NM_018668.5(VPS33B):c.1519C>T (p.Arg507Ter)	rs773306000
NM_018668.5(VPS33B):c.84T>A (p.Tyr28Ter)	rs2041122746
NM_173660.5(DOK7):c.1143del (p.Glu382fs)	rs606231132
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)	rs606231129

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