ClinVar Miner

List of variants reported as uncertain significance for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome by Baylor Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015426.5(POC1A):c.586C>T (p.His196Tyr) rs144052887 0.00093
NM_015426.5(POC1A):c.82A>G (p.Ser28Gly) rs141061033 0.00021
NM_015426.5(POC1A):c.784C>T (p.Arg262Trp) rs146976547 0.00019
NM_015426.5(POC1A):c.545C>T (p.Ser182Leu) rs1698387096 0.00001
NM_015426.5(POC1A):c.972G>A (p.Met324Ile) rs1289690139

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