ClinVar Miner

List of variants in gene DDB1 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001923.5(DDB1):c.2276A>C (p.Gln759Pro) rs1855974919 0.00001
NM_001923.5(DDB1):c.-1C>G
NM_001923.5(DDB1):c.1018A>G (p.Ser340Gly)
NM_001923.5(DDB1):c.1162C>T (p.Arg388Trp)
NM_001923.5(DDB1):c.1214C>T (p.Pro405Leu)
NM_001923.5(DDB1):c.1297A>G (p.Thr433Ala)
NM_001923.5(DDB1):c.1390G>T (p.Ala464Ser) rs2539673482
NM_001923.5(DDB1):c.1476G>C (p.Glu492Asp) rs2539671347
NM_001923.5(DDB1):c.1519C>G (p.Gln507Glu) rs1856030141
NM_001923.5(DDB1):c.1600A>T (p.Met534Leu) rs2134912317
NM_001923.5(DDB1):c.1670C>T (p.Ala557Val)
NM_001923.5(DDB1):c.1714C>T (p.Pro572Ser) rs2539670909
NM_001923.5(DDB1):c.1734C>A (p.His578Gln)
NM_001923.5(DDB1):c.188T>G (p.Val63Gly)
NM_001923.5(DDB1):c.2095C>G (p.Leu699Val)
NM_001923.5(DDB1):c.2201G>C (p.Gly734Ala)
NM_001923.5(DDB1):c.2647A>G (p.Ser883Gly) rs2539664765
NM_001923.5(DDB1):c.2665C>T (p.Arg889Trp)
NM_001923.5(DDB1):c.2839C>T (p.Arg947Ter)
NM_001923.5(DDB1):c.2901_2902dup (p.Ala968fs)
NM_001923.5(DDB1):c.3013A>G (p.Asn1005Asp) rs2134892719
NM_001923.5(DDB1):c.3137G>A (p.Ser1046Asn) rs2539658605
NM_001923.5(DDB1):c.3170G>A (p.Arg1057Gln) rs2539658571
NM_001923.5(DDB1):c.344C>T (p.Pro115Leu)
NM_001923.5(DDB1):c.424G>A (p.Val142Ile) rs2539690460
NM_001923.5(DDB1):c.496G>A (p.Asp166Asn) rs2539690367
NM_001923.5(DDB1):c.557_558del (p.Gln186fs) rs2134935116
NM_001923.5(DDB1):c.680G>A (p.Gly227Glu)
NM_001923.5(DDB1):c.698G>C (p.Gly233Ala)
NM_001923.5(DDB1):c.748C>G (p.Pro250Ala) rs2539685645
NM_001923.5(DDB1):c.901C>G (p.Arg301Gly) rs1056048628
NM_001923.5(DDB1):c.921+2T>G

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