List of variants reported as benign for acroosteolysis-keloid-like lesions-premature aging syndrome

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Total variants: 80

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HGVS	dbSNP	gnomAD frequency
NM_002609.4(PDGFRB):c.364+44C>T	rs740750	0.47472
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.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.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.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.971C>T (p.Thr324Ile)

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