List of variants reported as likely pathogenic for arthrogryposis syndrome by 3billion

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln)	rs387906960	0.00001
NM_001378183.1(PIEZO2):c.1766del (p.Phe589fs)
NM_001378183.1(PIEZO2):c.7107dup (p.Leu2370fs)
NM_001378183.1(PIEZO2):c.8395C>T (p.Arg2799Cys)	rs587777451
NM_018668.5(VPS33B):c.1602G>A (p.Trp534Ter)	rs2151662496
NM_139284.3(LGI4):c.774_778dup (p.Glu260fs)

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