ClinVar Miner

List of variants in gene ZC4H2 studied for arthrogryposis multiplex congenita

Included ClinVar conditions (55):
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Gene type:
ClinVar version:
Total variants: 53
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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.246A>C (p.Gln82His) rs778806442 0.00001
NM_018684.4(ZC4H2):c.53G>A (p.Arg18Lys) rs1057520299 0.00001
NC_000023.10:g.(?_64166588)_(64361318_?)del
NM_018684.4(ZC4H2):c.142T>A (p.Tyr48Asn)
NM_018684.4(ZC4H2):c.170A>C (p.Gln57Pro) rs1929211117
NM_018684.4(ZC4H2):c.172G>T (p.Glu58Ter)
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.208C>T (p.His70Tyr)
NM_018684.4(ZC4H2):c.218_220del (p.Ile73del)
NM_018684.4(ZC4H2):c.225+2T>C rs1929207873
NM_018684.4(ZC4H2):c.225+5G>A rs1057520298
NM_018684.4(ZC4H2):c.226-1G>C
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.269T>C (p.Leu90Pro)
NM_018684.4(ZC4H2):c.275_276del (p.Glu92fs) rs1929135614
NM_018684.4(ZC4H2):c.290T>C (p.Leu97Pro)
NM_018684.4(ZC4H2):c.290_292del (p.Leu97del)
NM_018684.4(ZC4H2):c.375AGA[1] (p.Glu128del) rs750367160
NM_018684.4(ZC4H2):c.388del (p.Leu130fs)
NM_018684.4(ZC4H2):c.398+1_398+3del
NM_018684.4(ZC4H2):c.3G>A (p.Met1Ile)
NM_018684.4(ZC4H2):c.406G>A (p.Glu136Lys)
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.426G>A (p.Trp142Ter) rs1929070198
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.566G>C (p.Cys189Ser)
NM_018684.4(ZC4H2):c.575G>A (p.Cys192Tyr) rs2147345743
NM_018684.4(ZC4H2):c.576del (p.His193fs) rs1929007323
NM_018684.4(ZC4H2):c.592C>G (p.Arg198Gly) rs137962226
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.617G>T (p.Cys206Phe) rs1064795753
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
NM_018684.4(ZC4H2):c.67C>T (p.Gln23Ter) rs1929216641
Single allele

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