ClinVar Miner

List of variants in gene ZC4H2 reported as pathogenic for X-linked disease

Included ClinVar conditions (311):
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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_018684.4(ZC4H2):c.187G>C (p.Val63Leu) rs398122938
NM_018684.4(ZC4H2):c.197T>A (p.Leu66His) rs1057520297
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018684.4(ZC4H2):c.225+5G>A rs1057520298
NM_018684.4(ZC4H2):c.22_23del (p.Met8fs) rs1555945816
NM_018684.4(ZC4H2):c.412C>T (p.Gln138Ter)
NM_018684.4(ZC4H2):c.427C>T (p.Gln143Ter) rs1260869746
NM_018684.4(ZC4H2):c.53G>A (p.Arg18Lys) rs1057520299
NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln) rs879255235
NM_018684.4(ZC4H2):c.601C>T (p.Pro201Ser) rs398122939
NM_018684.4(ZC4H2):c.637C>T (p.Arg213Trp) rs879255236
NM_018684.4(ZC4H2):c.650A>G (p.Lys217Arg)
Single allele

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