List of variants in gene CHD3 reported as pathogenic by GeneDx

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001005273.3(CHD3):c.1618dup (p.Arg540fs)	rs747299117
NM_001005273.3(CHD3):c.2896C>T (p.Arg966Trp)	rs1064795892
NM_001005273.3(CHD3):c.2897G>A (p.Arg966Gln)	rs1555611692
NM_001005273.3(CHD3):c.2954G>A (p.Arg985Gln)	rs1567856331
NM_001005273.3(CHD3):c.322C>T (p.Arg108Ter)
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp)	rs1567861468
NM_001005273.3(CHD3):c.3559C>G (p.Arg1187Gly)
NM_001005273.3(CHD3):c.720del (p.Ala241fs)

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