ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group E

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000107.3(DDB2):c.1189-21T>C rs326222 0.57722
NM_000107.3(DDB2):c.1235-32A>G rs901746 0.40443
NM_000107.3(DDB2):c.-120G>A rs4647707 0.08985
NM_000107.3(DDB2):c.*77C>T rs1050244 0.03171
NM_000107.3(DDB2):c.*151C>A rs4647760 0.01627
NM_000107.3(DDB2):c.738G>A (p.Thr246=) rs144266685 0.00268
NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr) rs143049891 0.00254
NM_000107.3(DDB2):c.-123T>G rs565058800 0.00216
NM_000107.3(DDB2):c.127+5T>G rs199965459 0.00144
NM_000107.3(DDB2):c.*126T>C rs554676341 0.00113
NM_000107.3(DDB2):c.1053T>C (p.Ile351=) rs61741581 0.00038
NM_000107.3(DDB2):c.*287T>G rs554393001 0.00030
NM_000107.3(DDB2):c.-36G>A rs201317629 0.00021
NM_000107.3(DDB2):c.59G>A (p.Arg20Lys) rs373622283 0.00015
NM_000107.3(DDB2):c.984G>A (p.Pro328=) rs138255134 0.00014
NM_000107.3(DDB2):c.281T>G (p.Phe94Cys) rs144729572 0.00011
NM_000107.3(DDB2):c.511C>G (p.Gln171Glu) rs201703288 0.00007
NM_000107.3(DDB2):c.-143A>G rs981369560 0.00005
NM_000107.3(DDB2):c.1023+9C>T rs372842821 0.00004
NM_000107.3(DDB2):c.264+8A>G rs374094218 0.00004
NM_000107.3(DDB2):c.818G>A (p.Arg273His) rs121434640 0.00002
NM_000107.3(DDB2):c.*142A>G rs923041619 0.00001
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.457-7G>A rs375645261 0.00001
NM_000107.3(DDB2):c.533A>C (p.Glu178Ala) rs760322280 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.930C>T (p.Ser310=) rs549041558 0.00001
NM_000107.3(DDB2):c.979A>T (p.Ile327Phe) rs776075728 0.00001
NM_000107.3(DDB2):c.-120G>C rs4647707
NM_000107.3(DDB2):c.-56A>G rs777159854
NM_000107.3(DDB2):c.1180A>G (p.Ile394Val) rs886048362
NM_000107.3(DDB2):c.1187C>A (p.Ser396Ter) rs781655324
NM_000107.3(DDB2):c.1234+1del rs2540429529
NM_000107.3(DDB2):c.254C>G (p.Ser85Cys) rs770922074
NM_000107.3(DDB2):c.414C>G (p.Leu138=) rs1953409225
NM_000107.3(DDB2):c.52C>T (p.Arg18Cys) rs201229167
NM_000107.3(DDB2):c.577G>A (p.Val193Ile) rs200406558
NM_000107.3(DDB2):c.702+12G>A rs55847708
NM_000107.3(DDB2):c.727_732del (p.Lys243_Lys244del) rs2540421653
NM_000107.3(DDB2):c.730A>G (p.Lys244Glu) rs121434639
NM_000107.3(DDB2):c.730_733del (p.Lys243_Lys244insTer) rs1336484333
NM_000107.3(DDB2):c.787G>A (p.Val263Ile)
NM_000107.3(DDB2):c.793C>A (p.Gln265Lys)
NM_000107.3(DDB2):c.85dup (p.Glu29fs) rs2540389596
NM_000107.3(DDB2):c.919G>T (p.Asp307Tyr) rs121434642
NM_000107.3(DDB2):c.937C>T (p.Arg313Ter) rs121434641
NM_000107.3(DDB2):c.970dup (p.Leu324fs)
NM_000107.3(DDB2):c.985C>T (p.His329Tyr) rs1591001619

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