ClinVar Miner

List of variants reported as uncertain significance for cardiac valvular defect, developmental by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002662.5(PLD1):c.2569A>G (p.Ile857Val) rs143219477 0.00062
NM_002662.5(PLD1):c.1319G>A (p.Arg440His) rs146936145 0.00008
NM_002662.5(PLD1):c.893G>A (p.Arg298Gln) rs368807491 0.00006
NM_002662.5(PLD1):c.91C>T (p.Arg31Trp) rs765460828 0.00002
NM_002662.5(PLD1):c.1543G>A (p.Ala515Thr) rs1714706978 0.00001

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