ClinVar Miner

List of variants reported as likely pathogenic for congenital heart defects and ectodermal dysplasia

Included ClinVar conditions (1):

Congenital heart defects and ectodermal dysplasia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002742.3(PRKD1):c.1316G>A (p.Arg439Gln)	rs1439477100
NM_002742.3(PRKD1):c.1905+2T>A	rs2139090218
NM_002742.3(PRKD1):c.265-1G>T

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