List of variants in gene ZC4H2 reported as pathogenic for congenital limb malformation

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_018684.4(ZC4H2):c.53G>A (p.Arg18Lys)	rs1057520299	0.00001
NC_000023.10:g.(?_64166588)_(64361318_?)del
NM_018684.4(ZC4H2):c.172G>T (p.Glu58Ter)
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+2T>C	rs1929207873
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.275_276del (p.Glu92fs)	rs1929135614
NM_018684.4(ZC4H2):c.388del (p.Leu130fs)
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.575G>A (p.Cys192Tyr)	rs2147345743
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.617G>T (p.Cys206Phe)	rs1064795753
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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