ClinVar Miner

List of variants in gene PDGFRA reported as likely benign for cardiomyopathy

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_006206.6(PDGFRA):c.368-3C>T rs55947416 0.04647
NM_006206.6(PDGFRA):c.1122G>C (p.Arg374Ser) rs61735622 0.00183
NM_006206.6(PDGFRA):c.*2100A>G rs192159089 0.00083
NM_006206.5(PDGFRA):c.*2973+14G>A rs137930765 0.00074
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg) rs150577828 0.00034
NM_006206.6(PDGFRA):c.*1778C>A rs182602738 0.00019
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val) rs199827643 0.00014
NM_006206.6(PDGFRA):c.2942G>A (p.Arg981His) rs368266633 0.00010
NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu) rs754092062 0.00009
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala) rs200033396 0.00006
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) rs200042995 0.00004
NM_006206.6(PDGFRA):c.*505A>G rs373134586 0.00001
NM_006206.6(PDGFRA):c.1471G>A (p.Ala491Thr) rs563016888 0.00001
NM_006206.6(PDGFRA):c.2266G>A (p.Asp756Asn) rs555347387 0.00001
NM_006206.6(PDGFRA):c.3191A>G (p.Asp1064Gly) rs375050626 0.00001
NM_006206.6(PDGFRA):c.853A>G (p.Ser285Gly) rs541057765

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