ClinVar Miner

List of variants reported as uncertain significance for Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.1990G>A (p.Val664Met) rs551617843 0.00008
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) rs200076785 0.00005
NM_001374353.1(GLI2):c.1367G>A (p.Arg456His) rs150170739 0.00005
NM_001374353.1(GLI2):c.4339G>A (p.Gly1447Arg) rs200274772 0.00004
NM_001374353.1(GLI2):c.2242G>A (p.Gly748Ser) rs374074240
NM_001374353.1(GLI2):c.3297C>G (p.Asn1099Lys) rs368638181
NM_001374353.1(GLI2):c.3886C>A (p.Pro1296Thr) rs767845340
NM_001374353.1(GLI2):c.4469C>G (p.Ala1490Gly)

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