ClinVar Miner

List of variants studied for cardiac valvular defect, developmental by Revvity Omics, Revvity

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002662.5(PLD1):c.1319G>A (p.Arg440His) rs146936145 0.00008
NM_002662.5(PLD1):c.2134C>T (p.Arg712Trp)
NM_002662.5(PLD1):c.2284A>G (p.Ile762Val)
NM_002662.5(PLD1):c.280A>G (p.Thr94Ala)

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