ClinVar Miner

List of variants studied for Wieacker-Wolff syndrome

Included ClinVar conditions (2):
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_018684.4(ZC4H2):c.432A>G (p.Thr144=) rs6524946 0.08938
NM_018684.4(ZC4H2):c.53G>A (p.Arg18Lys) rs1057520299 0.00001
NM_018684.4(ZC4H2):c.142T>A (p.Tyr48Asn)
NM_018684.4(ZC4H2):c.170A>C (p.Gln57Pro) rs1929211117
NM_018684.4(ZC4H2):c.174_178del (p.Glu58fs) rs2147349682
NM_018684.4(ZC4H2):c.177G>T (p.Lys59Asn)
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.243_246del (p.Lys81fs) rs1929136990
NM_018684.4(ZC4H2):c.375AGA[1] (p.Glu128del) rs750367160
NM_018684.4(ZC4H2):c.406G>C (p.Glu136Gln) rs751880978
NM_018684.4(ZC4H2):c.412C>T (p.Gln138Ter) rs1602379828
NM_018684.4(ZC4H2):c.427C>T (p.Gln143Ter) rs1260869746
NM_018684.4(ZC4H2):c.527C>T (p.Thr176Met)
NM_018684.4(ZC4H2):c.53+10513C>T rs1931569117
NM_018684.4(ZC4H2):c.535_538dup (p.Arg180fs) rs1929057804
NM_018684.4(ZC4H2):c.54-1G>A rs1569201245
NM_018684.4(ZC4H2):c.551del (p.Pro184fs)
NM_018684.4(ZC4H2):c.561+7G>A rs1929057022
NM_018684.4(ZC4H2):c.561G>T (p.Lys187Asn) rs1929057155
NM_018684.4(ZC4H2):c.576del (p.His193fs) rs1929007323
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226
NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln) rs879255235
NM_018684.4(ZC4H2):c.598G>A (p.Ala200Thr) rs1929006117
NM_018684.4(ZC4H2):c.601C>T (p.Pro201Ser) rs398122939
NM_018684.4(ZC4H2):c.631C>T (p.Arg211Trp) rs1555933616
NM_018684.4(ZC4H2):c.637C>T (p.Arg213Trp) rs879255236
NM_018684.4(ZC4H2):c.650A>G (p.Lys217Arg) rs1929002470
Single allele

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