ClinVar Miner

List of variants in gene ZC4H2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_018684.4(ZC4H2):c.246A>C (p.Gln82His) rs778806442 0.00001
NM_018684.4(ZC4H2):c.149A>T (p.Gln50Leu)
NM_018684.4(ZC4H2):c.188T>C (p.Val63Ala) rs1555934273
NM_018684.4(ZC4H2):c.316G>A (p.Glu106Lys)
NM_018684.4(ZC4H2):c.331C>A (p.Leu111Met)
NM_018684.4(ZC4H2):c.366C>A (p.Asp122Glu)
NM_018684.4(ZC4H2):c.379GAG[1] (p.Glu128del) rs1569200350
NM_018684.4(ZC4H2):c.476C>T (p.Ala159Val)
NM_018684.4(ZC4H2):c.502G>A (p.Ala168Thr)

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