List of variants in gene PLD1 reported as likely pathogenic for cardiac valvular defect, developmental

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_002662.5(PLD1):c.2023C>T (p.Arg675Trp)	rs202167212	0.00006
NM_002662.5(PLD1):c.1219C>T (p.Arg407Ter)	rs200206423	0.00002
NM_002662.5(PLD1):c.2543+1G>T	rs779667018	0.00002
NM_002662.5(PLD1):c.1062-2A>T
NM_002662.5(PLD1):c.1403T>A (p.Val468Asp)
NM_002662.5(PLD1):c.2593+1G>A
NM_002662.5(PLD1):c.2602C>T (p.Gln868Ter)
NM_002662.5(PLD1):c.3094C>T (p.Arg1032Ter)
NM_002662.5(PLD1):c.498del (p.Ser167fs)	rs1719235551

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