ClinVar Miner

List of variants in gene PDGFRB reported as uncertain significance by Ambry Genetics

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_002609.4(PDGFRB):c.164C>T (p.Ser55Leu) rs147952898 0.00003
NM_002609.4(PDGFRB):c.3011C>T (p.Thr1004Ile) rs770576414 0.00002
NM_002609.4(PDGFRB):c.2362C>T (p.Arg788Ter) rs1320275282 0.00001
NM_002609.4(PDGFRB):c.1109G>A (p.Arg370His)
NM_002609.4(PDGFRB):c.121G>A (p.Glu41Lys)
NM_002609.4(PDGFRB):c.1399G>A (p.Gly467Arg)
NM_002609.4(PDGFRB):c.1433C>T (p.Thr478Ile)
NM_002609.4(PDGFRB):c.1537G>A (p.Ala513Thr)
NM_002609.4(PDGFRB):c.1556AGG[1] (p.Glu520del)
NM_002609.4(PDGFRB):c.1562T>G (p.Val521Gly)
NM_002609.4(PDGFRB):c.1660A>G (p.Met554Val)
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) rs1060499542
NM_002609.4(PDGFRB):c.1822T>C (p.Ser608Pro)
NM_002609.4(PDGFRB):c.1897G>A (p.Val633Ile)
NM_002609.4(PDGFRB):c.2044G>A (p.Glu682Lys)
NM_002609.4(PDGFRB):c.2111A>G (p.His704Arg)
NM_002609.4(PDGFRB):c.2128C>T (p.Pro710Ser)
NM_002609.4(PDGFRB):c.2528G>A (p.Cys843Tyr)
NM_002609.4(PDGFRB):c.2553C>G (p.Ile851Met)
NM_002609.4(PDGFRB):c.2688C>G (p.Ile896Met)
NM_002609.4(PDGFRB):c.277C>A (p.Leu93Ile)
NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn)
NM_002609.4(PDGFRB):c.2914C>A (p.Gln972Lys)
NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys)
NM_002609.4(PDGFRB):c.3032C>A (p.Ala1011Asp)
NM_002609.4(PDGFRB):c.3139T>C (p.Ser1047Pro)
NM_002609.4(PDGFRB):c.3149A>G (p.Asn1050Ser)
NM_002609.4(PDGFRB):c.314C>T (p.Ser105Phe)
NM_002609.4(PDGFRB):c.3181G>A (p.Asp1061Asn)
NM_002609.4(PDGFRB):c.31G>A (p.Ala11Thr)
NM_002609.4(PDGFRB):c.3263dup (p.Leu1089fs)
NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu)
NM_002609.4(PDGFRB):c.341A>C (p.Lys114Thr)
NM_002609.4(PDGFRB):c.529C>G (p.Arg177Gly)
NM_002609.4(PDGFRB):c.70C>T (p.Leu24Phe)
NM_002609.4(PDGFRB):c.772G>A (p.Val258Met)
NM_002609.4(PDGFRB):c.799G>A (p.Asp267Asn)
NM_002609.4(PDGFRB):c.862A>G (p.Thr288Ala)

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