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

Minimum submission review status:		Collection method:
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: 14

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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.142T>A (p.Tyr48Asn)
NM_018684.4(ZC4H2):c.170A>C (p.Gln57Pro)	rs1929211117
NM_018684.4(ZC4H2):c.177G>T (p.Lys59Asn)
NM_018684.4(ZC4H2):c.218_220del (p.Ile73del)
NM_018684.4(ZC4H2):c.269T>C (p.Leu90Pro)
NM_018684.4(ZC4H2):c.290_292del (p.Leu97del)
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.527C>T (p.Thr176Met)
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

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