List of variants reported as benign for acroosteolysis-keloid-like lesions-premature aging syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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

Total variants: 83

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002609.4(PDGFRB):c.3137+4A>G	rs246391	0.38064
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=)	rs246388	0.36918
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=)	rs246395	0.26470
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=)	rs2228440	0.09078
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)	rs17110944	0.07088
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met)	rs74943037	0.02595
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=)	rs56072663	0.02433
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)	rs41287110	0.01976
NM_002609.4(PDGFRB):c.1761G>A (p.Leu587=)	rs56078873	0.00930
NM_002609.4(PDGFRB):c.102C>T (p.Val34=)	rs17708515	0.00869
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)	rs2229558	0.00834
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)	rs2228439	0.00793
NM_002609.4(PDGFRB):c.365-4G>T	rs139448702	0.00583
NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val)	rs149417689	0.00523
NM_002609.4(PDGFRB):c.1376G>A (p.Arg459His)	rs149274963	0.00426
NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=)	rs116171826	0.00425
NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys)	rs116642123	0.00302
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)	rs41287112	0.00287
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)	rs114435947	0.00259
NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=)	rs56069016	0.00247
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)	rs41287108	0.00236
NM_002609.4(PDGFRB):c.1872T>C (p.His624=)	rs141371542	0.00166
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln)	rs148974733	0.00159
NM_002609.4(PDGFRB):c.12G>A (p.Pro4=)	rs138641101	0.00128
NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=)	rs55647240	0.00093
NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=)	rs143375423	0.00088
NM_002609.4(PDGFRB):c.714C>T (p.Ile238=)	rs41287114	0.00087
NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=)	rs148709288	0.00054
NM_002609.4(PDGFRB):c.2889C>T (p.Gly963=)	rs139623802	0.00037
NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=)	rs200225593	0.00032
NM_002609.4(PDGFRB):c.2463C>T (p.Asn821=)	rs78336563	0.00029
NM_002609.4(PDGFRB):c.1223C>G (p.Ser408Cys)	rs200203294	0.00024
NM_002609.4(PDGFRB):c.3276G>A (p.Ser1092=)	rs774197688	0.00017
NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys)	rs200684708	0.00016
NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=)	rs183852315	0.00015
NM_002609.4(PDGFRB):c.1368-15C>T	rs777941214	0.00013
NM_002609.4(PDGFRB):c.1083C>T (p.Ser361=)	rs146064275	0.00009
NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys)	rs749932332	0.00009
NM_002609.4(PDGFRB):c.486G>A (p.Glu162=)	rs147141808	0.00009
NM_002609.4(PDGFRB):c.2053C>T (p.Arg685Cys)	rs763239423	0.00008
NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His)	rs759436020	0.00006
NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=)	rs371550567	0.00005
NM_002609.4(PDGFRB):c.3102C>T (p.Asp1034=)	rs569140859	0.00004
NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=)	rs150562879	0.00003
NM_002609.4(PDGFRB):c.3030T>G (p.Thr1010=)	rs182175304	0.00003
NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys)	rs765124485	0.00002
NM_002609.4(PDGFRB):c.2587-5T>C	rs758524703	0.00001
NM_002609.4(PDGFRB):c.1063C>T (p.Arg355Cys)
NM_002609.4(PDGFRB):c.1089C>T (p.Gly363=)
NM_002609.4(PDGFRB):c.1095C>T (p.Ile365=)
NM_002609.4(PDGFRB):c.1127+7A>G
NM_002609.4(PDGFRB):c.1155C>T (p.Arg385=)
NM_002609.4(PDGFRB):c.11C>T (p.Pro4Leu)
NM_002609.4(PDGFRB):c.1243+4A>T	rs573720818
NM_002609.4(PDGFRB):c.1368-14G>A
NM_002609.4(PDGFRB):c.1438G>A (p.Val480Met)
NM_002609.4(PDGFRB):c.1553C>T (p.Thr518Met)
NM_002609.4(PDGFRB):c.1579+10C>T	rs571420039
NM_002609.4(PDGFRB):c.1896C>T (p.Ala632=)
NM_002609.4(PDGFRB):c.1913-16C>G
NM_002609.4(PDGFRB):c.1938A>G (p.Gln646=)
NM_002609.4(PDGFRB):c.1989C>T (p.Asn663=)
NM_002609.4(PDGFRB):c.2129C>T (p.Pro710Leu)
NM_002609.4(PDGFRB):c.2164G>T (p.Val722Phe)	rs142689325
NM_002609.4(PDGFRB):c.2212G>A (p.Gly738Ser)
NM_002609.4(PDGFRB):c.2243C>T (p.Ser748Leu)
NM_002609.4(PDGFRB):c.2276G>A (p.Gly759Glu)
NM_002609.4(PDGFRB):c.2280C>T (p.Asp760=)
NM_002609.4(PDGFRB):c.2464-19C>G
NM_002609.4(PDGFRB):c.250G>A (p.Val84Met)
NM_002609.4(PDGFRB):c.2904+15G>A
NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys)
NM_002609.4(PDGFRB):c.3018C>T (p.Ser1006=)
NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu)
NM_002609.4(PDGFRB):c.3288G>A (p.Ala1096=)
NM_002609.4(PDGFRB):c.344G>A (p.Arg115Gln)
NM_002609.4(PDGFRB):c.5G>A (p.Arg2Gln)
NM_002609.4(PDGFRB):c.645C>T (p.Asn215=)
NM_002609.4(PDGFRB):c.843C>T (p.Ala281=)
NM_002609.4(PDGFRB):c.882G>A (p.Thr294=)
NM_002609.4(PDGFRB):c.938G>A (p.Ser313Asn)
NM_002609.4(PDGFRB):c.949C>A (p.Arg317=)
NM_002609.4(PDGFRB):c.971C>T (p.Thr324Ile)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.