List of variants studied for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_015426.5(POC1A):c.1085C>T (p.Thr362Met)	rs186299883	0.00045
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter)	rs397514487	0.00001
NM_015426.5(POC1A):c.104-2A>C
NM_015426.5(POC1A):c.431A>G (p.His144Arg)
NM_015426.5(POC1A):c.445C>T (p.Arg149Cys)
NM_015426.5(POC1A):c.55C>T (p.Arg19Ter)

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