List of variants in gene ZC4H2 reported as pathogenic by Ambry Genetics

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_018684.4(ZC4H2):c.148C>T (p.Gln50Ter)	rs797044863
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter)	rs1131691616
NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs)	rs1929136990
NM_018684.4(ZC4H2):c.450dup (p.Ile151fs)	rs1555933851
NM_018684.4(ZC4H2):c.637C>T (p.Arg213Trp)	rs879255236

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