List of variants in gene PDGFRA reported as uncertain significance by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 74

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HGVS	dbSNP	gnomAD frequency
NM_006206.6(PDGFRA):c.1280C>T (p.Ser427Leu)	rs61735621	0.00056
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg)	rs150577828	0.00034
NM_006206.6(PDGFRA):c.3155C>T (p.Thr1052Met)	rs397514550	0.00034
NM_006206.6(PDGFRA):c.2291G>A (p.Arg764His)	rs141047712	0.00015
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val)	rs199827643	0.00014
NM_006206.6(PDGFRA):c.466G>A (p.Glu156Lys)	rs760631068	0.00012
NM_006206.6(PDGFRA):c.2965A>G (p.Ile989Val)	rs145019788	0.00011
NM_006206.6(PDGFRA):c.1099G>A (p.Val367Met)	rs147982027	0.00010
NM_006206.6(PDGFRA):c.2942G>A (p.Arg981His)	rs368266633	0.00010
NM_006206.6(PDGFRA):c.1319C>T (p.Thr440Met)	rs143344944	0.00009
NM_006206.6(PDGFRA):c.248C>T (p.Thr83Met)	rs779332376	0.00009
NM_006206.6(PDGFRA):c.1388C>G (p.Thr463Ser)	rs375047532	0.00006
NM_006206.6(PDGFRA):c.2957A>G (p.Asn986Ser)	rs372859148	0.00006
NM_006206.6(PDGFRA):c.772A>G (p.Ile258Val)	rs1039985533	0.00006
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala)	rs200033396	0.00006
NM_006206.6(PDGFRA):c.2366G>A (p.Gly789Asp)	rs555553917	0.00005
NM_006206.6(PDGFRA):c.3179T>A (p.Ile1060Asn)	rs774522904	0.00005
NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg)	rs769631321	0.00004
NM_006206.6(PDGFRA):c.1436G>A (p.Arg479Gln)	rs777341485	0.00004
NM_006206.6(PDGFRA):c.1450G>A (p.Val484Met)	rs149031291	0.00004
NM_006206.6(PDGFRA):c.1700C>T (p.Pro567Leu)	rs201503614	0.00004
NM_006206.6(PDGFRA):c.2470G>A (p.Val824Ile)	rs370600501	0.00004
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg)	rs200042995	0.00004
NM_006206.6(PDGFRA):c.784G>C (p.Glu262Gln)	rs376265745	0.00004
NM_006206.6(PDGFRA):c.1057A>C (p.Asn353His)	rs139103850	0.00003
NM_006206.6(PDGFRA):c.1422G>A (p.Thr474=)	rs149899465	0.00003
NM_006206.6(PDGFRA):c.2069G>T (p.Arg690Met)	rs1344375373	0.00003
NM_006206.6(PDGFRA):c.842C>T (p.Thr281Met)	rs770343276	0.00003
NM_006206.6(PDGFRA):c.899A>C (p.Lys300Thr)	rs368648130	0.00003
NM_006206.6(PDGFRA):c.97A>T (p.Asn33Tyr)	rs200979664	0.00003
NM_006206.6(PDGFRA):c.1237+3A>T	rs760562117	0.00002
NM_006206.6(PDGFRA):c.1822G>A (p.Val608Ile)	rs138740193	0.00002
NM_006206.6(PDGFRA):c.3040G>A (p.Ala1014Thr)	rs768291477	0.00002
NM_006206.6(PDGFRA):c.3077A>G (p.Asp1026Gly)	rs1418641601	0.00002
NM_006206.6(PDGFRA):c.3083T>C (p.Val1028Ala)	rs765476521	0.00002
NM_006206.6(PDGFRA):c.877C>T (p.Arg293Cys)	rs762106764	0.00002
NM_006206.6(PDGFRA):c.1267G>A (p.Asp423Asn)	rs776298880	0.00001
NM_006206.6(PDGFRA):c.1282A>G (p.Thr428Ala)	rs878854820	0.00001
NM_006206.6(PDGFRA):c.1425G>T (p.Glu475Asp)	rs200309940	0.00001
NM_006206.6(PDGFRA):c.1471G>A (p.Ala491Thr)	rs563016888	0.00001
NM_006206.6(PDGFRA):c.1495G>A (p.Val499Met)	rs746574289	0.00001
NM_006206.6(PDGFRA):c.1516C>T (p.Leu506Phe)	rs142980928	0.00001
NM_006206.6(PDGFRA):c.1658C>T (p.Pro553Leu)	rs1060501502	0.00001
NM_006206.6(PDGFRA):c.1668A>T (p.Glu556Asp)	rs1553904439	0.00001
NM_006206.6(PDGFRA):c.1789C>T (p.Arg597Trp)	rs1349318035	0.00001
NM_006206.6(PDGFRA):c.2036A>G (p.Tyr679Cys)	rs772617321	0.00001
NM_006206.6(PDGFRA):c.2285A>G (p.Tyr762Cys)	rs1171641135	0.00001
NM_006206.6(PDGFRA):c.2575G>A (p.Val859Met)	rs1060501520	0.00001
NM_006206.6(PDGFRA):c.275C>T (p.Ala92Val)	rs759729258	0.00001
NM_006206.6(PDGFRA):c.3191A>G (p.Asp1064Gly)	rs375050626	0.00001
NM_006206.6(PDGFRA):c.401C>T (p.Thr134Met)	rs373126818	0.00001
NM_006206.6(PDGFRA):c.46A>T (p.Thr16Ser)	rs587778596	0.00001
NM_006206.6(PDGFRA):c.613G>A (p.Val205Ile)	rs775304724	0.00001
NM_006206.6(PDGFRA):c.799C>T (p.Pro267Ser)	rs757378016	0.00001
NM_006206.6(PDGFRA):c.*5C>T
NM_006206.6(PDGFRA):c.1243T>C (p.Ser415Pro)	rs1060501514
NM_006206.6(PDGFRA):c.1357A>G (p.Ile453Val)	rs587778603
NM_006206.6(PDGFRA):c.1411A>C (p.Asn471His)	rs758497476
NM_006206.6(PDGFRA):c.1546C>G (p.Leu516Val)	rs763214177
NM_006206.6(PDGFRA):c.1750T>G (p.Ser584Ala)	rs2110300449
NM_006206.6(PDGFRA):c.1848C>G (p.Ser616Arg)	rs780111998
NM_006206.6(PDGFRA):c.2146A>G (p.Ser716Gly)	rs1553905049
NM_006206.6(PDGFRA):c.2609A>G (p.Asn870Ser)	rs1553906267
NM_006206.6(PDGFRA):c.2768G>C (p.Ser923Thr)	rs1060501511
NM_006206.6(PDGFRA):c.2942G>T (p.Arg981Leu)	rs368266633
NM_006206.6(PDGFRA):c.2953G>A (p.Asp985Asn)	rs1060501516
NM_006206.6(PDGFRA):c.3206_3211delinsGCATCA (p.Asp1069_Asp1071delinsGlyIleAsn)
NM_006206.6(PDGFRA):c.3207C>G (p.Asp1069Glu)
NM_006206.6(PDGFRA):c.3259A>G (p.Ser1087Gly)	rs2110359113
NM_006206.6(PDGFRA):c.506C>T (p.Pro169Leu)
NM_006206.6(PDGFRA):c.701C>T (p.Thr234Ile)	rs1553902931
NM_006206.6(PDGFRA):c.865G>C (p.Glu289Gln)
NM_006206.6(PDGFRA):c.878G>A (p.Arg293His)	rs373948582
NM_006206.6(PDGFRA):c.898A>G (p.Lys300Glu)	rs996658686

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