ClinVar Miner

List of variants in gene DDB2 reported as uncertain significance for hereditary skin disorder

Included ClinVar conditions (790):
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000107.3(DDB2):c.*126T>C rs554676341 0.00113
NM_000107.3(DDB2):c.1053T>C (p.Ile351=) rs61741581 0.00039
NM_000107.3(DDB2):c.*287T>G rs554393001 0.00029
NM_000107.3(DDB2):c.1120G>A (p.Val374Met) rs148299549 0.00028
NM_000107.3(DDB2):c.674T>C (p.Val225Ala) rs202083037 0.00021
NM_000107.3(DDB2):c.984G>A (p.Pro328=) rs138255134 0.00014
NM_000107.3(DDB2):c.511C>G (p.Gln171Glu) rs201703288 0.00007
NM_000107.3(DDB2):c.1023+9C>T rs372842821 0.00004
NM_000107.3(DDB2):c.1126G>A (p.Asp376Asn) rs375649516 0.00004
NM_000107.3(DDB2):c.264+8A>G rs374094218 0.00004
NM_000107.3(DDB2):c.619C>T (p.Leu207=) rs753070223 0.00003
NM_000107.3(DDB2):c.930C>T (p.Ser310=) rs549041558 0.00003
NM_000107.3(DDB2):c.*7C>T rs763312773 0.00001
NM_000107.3(DDB2):c.1070C>T (p.Pro357Leu) rs780665825 0.00001
NM_000107.3(DDB2):c.1234+9G>A rs756484790 0.00001
NM_000107.3(DDB2):c.457-7G>A rs375645261 0.00001
NM_000107.3(DDB2):c.533A>C (p.Glu178Ala) rs760322280 0.00001
NM_000107.3(DDB2):c.702+5G>A rs764606058 0.00001
NM_000107.3(DDB2):c.852G>A (p.Ser284=) rs1953702034 0.00001
NM_000107.3(DDB2):c.876C>T (p.Asn292=) rs778504979 0.00001
NM_000107.3(DDB2):c.905G>A (p.Arg302Gln) rs761699363 0.00001
NM_000107.3(DDB2):c.979A>T (p.Ile327Phe) rs776075728 0.00001
NM_000107.3(DDB2):c.*142A>G rs923041619
NM_000107.3(DDB2):c.*334_*335del rs4647761
NM_000107.3(DDB2):c.1180A>G (p.Ile394Val) rs886048362
NM_000107.3(DDB2):c.1234+1del
NM_000107.3(DDB2):c.196T>G (p.Cys66Gly) rs1275847261
NM_000107.3(DDB2):c.254C>G (p.Ser85Cys) rs770922074
NM_000107.3(DDB2):c.281T>G (p.Phe94Cys)
NM_000107.3(DDB2):c.414C>G (p.Leu138=) rs1953409225
NM_000107.3(DDB2):c.603-4C>G rs2135511675
NM_000107.3(DDB2):c.702+12G>A rs55847708
NM_000107.3(DDB2):c.727_732del (p.Lys243_Lys244del)
NM_000107.3(DDB2):c.787G>A (p.Val263Ile)
NM_000107.3(DDB2):c.793C>A (p.Gln265Lys)
NM_000107.3(DDB2):c.869C>T (p.Pro290Leu) rs2135512289
NM_000107.3(DDB2):c.914C>A (p.Thr305Asn) rs886048361
NM_000107.3(DDB2):c.985C>T (p.His329Tyr) rs1591001619

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