ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group E

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Total variants: 38
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HGVS dbSNP
NM_000107.2(DDB2):c.*126T>C rs554676341
NM_000107.2(DDB2):c.*151C>A rs4647760
NM_000107.2(DDB2):c.*77C>T rs1050244
NM_000107.2(DDB2):c.-120G>A rs4647707
NM_000107.2(DDB2):c.-123T>G rs565058800
NM_000107.2(DDB2):c.-56A>G rs777159854
NM_000107.2(DDB2):c.1023+9C>T rs372842821
NM_000107.2(DDB2):c.1070C>T (p.Pro357Leu) rs780665825
NM_000107.2(DDB2):c.1180A>G (p.Ile394Val) rs886048362
NM_000107.2(DDB2):c.1228G>A (p.Ala410Thr) rs143049891
NM_000107.2(DDB2):c.264+8A>G rs374094218
NM_000107.2(DDB2):c.577G>A (p.Val193Ile) rs200406558
NM_000107.2(DDB2):c.702+12G>A rs55847708
NM_000107.2(DDB2):c.738G>A (p.Thr246=) rs144266685
NM_000107.2(DDB2):c.876C>T (p.Asn292=) rs778504979
NM_000107.2(DDB2):c.905G>A (p.Arg302Gln) rs761699363
NM_000107.2(DDB2):c.914C>A (p.Thr305Asn) rs886048361
NM_000107.2(DDB2):c.930C>T (p.Ser310=) rs549041558
NM_000107.2(DDB2):c.979A>T (p.Ile327Phe) rs776075728
NM_000107.2(DDB2):c.984G>A (p.Pro328=) rs138255134
NM_000107.3(DDB2):c.*142A>G
NM_000107.3(DDB2):c.*287T>G
NM_000107.3(DDB2):c.*7C>T
NM_000107.3(DDB2):c.-120G>C
NM_000107.3(DDB2):c.-143A>G
NM_000107.3(DDB2):c.-36G>A
NM_000107.3(DDB2):c.1053T>C (p.Ile351=) rs61741581
NM_000107.3(DDB2):c.127+5T>G rs199965459
NM_000107.3(DDB2):c.254C>G (p.Ser85Cys)
NM_000107.3(DDB2):c.414C>G (p.Leu138=)
NM_000107.3(DDB2):c.457-7G>A
NM_000107.3(DDB2):c.533A>C (p.Glu178Ala)
NM_000107.3(DDB2):c.59G>A (p.Arg20Lys)
NM_000107.3(DDB2):c.852G>A (p.Ser284=)
NM_001300734.1(DDB2):c.457-2511C>T rs121434641
NM_001300734.1(DDB2):c.457-2529G>T rs121434642
NM_001300734.1(DDB2):c.457-2965G>A rs121434640
NM_001300734.1(DDB2):c.457-3053A>G rs121434639

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