List of variants reported as likely pathogenic for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_015426.5(POC1A):c.253G>C (p.Val85Leu)	rs112213336	0.00024
NM_015426.5(POC1A):c.649C>T (p.Arg217Trp)	rs372247136	0.00004
NM_015426.5(POC1A):c.1A>G (p.Met1Val)	rs747094191	0.00001
NM_015426.5(POC1A):c.104-2A>C
NM_015426.5(POC1A):c.104-2del
NM_015426.5(POC1A):c.483_484del (p.Ser162fs)
NM_015426.5(POC1A):c.55C>T (p.Arg19Ter)
NM_015426.5(POC1A):c.64G>T (p.Val22Phe)	rs918352190
NM_015426.5(POC1A):c.729C>G (p.Tyr243Ter)
NM_015426.5(POC1A):c.893G>A (p.Trp298Ter)	rs2107090748

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