ClinVar Miner

List of variants in gene PRDM16 reported as pathogenic for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu) rs397514744 0.00003
NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser) rs397514743 0.00001
NM_022114.4(PRDM16):c.1573dup (p.Arg525fs) rs886041395
NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter) rs397514742
NM_022114.4(PRDM16):c.213del (p.Val72fs) rs1569798933
NM_022114.4(PRDM16):c.2660T>C (p.Leu887Pro) rs202115331
NM_022114.4(PRDM16):c.534C>A (p.Cys178Ter) rs1643176372

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