ClinVar Miner

List of variants reported as pathogenic for cardiac valvular defect, developmental by OMIM

Included ClinVar conditions (1):

Cardiac valvular defect, developmental

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_002662.5(PLD1):c.1325A>C (p.His442Pro)	rs769669104
NM_002662.5(PLD1):c.1484_1485del (p.Thr495fs)	rs778311238
NM_002662.5(PLD1):c.2882+2T>C	rs1085307450

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