List of variants in gene ZNF462 reported as pathogenic by Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_021224.6(ZNF462):c.1151del (p.Asn384fs)	rs2538729222
NM_021224.6(ZNF462):c.1690C>T (p.Gln564Ter)	rs1379106674
NM_021224.6(ZNF462):c.2726del (p.His909fs)	rs2538759243
NM_021224.6(ZNF462):c.4180del (p.Trp1394fs)	rs2538791482
NM_021224.6(ZNF462):c.507C>A (p.Tyr169Ter)	rs1418374583
NM_021224.6(ZNF462):c.5323C>T (p.Gln1775Ter)	rs2538810845
NM_021224.6(ZNF462):c.6163C>T (p.Arg2055Ter)	rs1830597071

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