ClinVar Miner

List of variants in gene PLD1 reported as uncertain significance for Cardiac valvular defect, developmental

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Total variants: 12
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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.2500G>A (p.Gly834Ser) rs142188788 0.00008
NM_002662.5(PLD1):c.893G>A (p.Arg298Gln) rs368807491 0.00006
NM_002662.5(PLD1):c.1982A>T (p.Asp661Val) rs762462912 0.00005
NM_002662.5(PLD1):c.2134C>T (p.Arg712Trp) rs750491194 0.00002
NM_002662.5(PLD1):c.91C>T (p.Arg31Trp) rs765460828 0.00002
NM_002662.5(PLD1):c.1543G>A (p.Ala515Thr) rs1714706978 0.00001
NM_002662.5(PLD1):c.2284A>G (p.Ile762Val) rs781545382 0.00001
NM_002662.5(PLD1):c.1042G>T (p.Glu348Ter) rs2473991790
NM_002662.5(PLD1):c.280A>G (p.Thr94Ala) rs780724576
NM_002662.5(PLD1):c.3000+2T>A rs2473500615

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