ClinVar Miner

List of variants in gene XPA reported as likely pathogenic for DNA repair disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000380.4(XPA):c.731A>G (p.His244Arg) rs144725456 0.00008
NM_000380.4(XPA):c.555G>C (p.Gln185His) rs746617574 0.00002
NM_000380.4(XPA):c.646C>T (p.Gln216Ter) rs761978351 0.00002
NM_000380.4(XPA):c.774dup (p.Lys259Ter) rs752573039 0.00002
NM_000380.4(XPA):c.338_339del (p.Met113fs) rs748286715 0.00001
NM_000380.4(XPA):c.545_546dup (p.Lys183Ter) rs757098056 0.00001
NM_000380.4(XPA):c.642_645dup (p.Gln216fs) rs764582394 0.00001
NM_000380.4(XPA):c.-4_26del (p.Met1_Pro9del) rs1554703183
NM_000380.4(XPA):c.10del (p.Ala4fs) rs779161471
NM_000380.4(XPA):c.172+1G>A rs1554703119
NM_000380.4(XPA):c.172+1G>T rs1554703119
NM_000380.4(XPA):c.173-2A>G
NM_000380.4(XPA):c.197del (p.Pro66fs) rs1554702629
NM_000380.4(XPA):c.235G>T (p.Glu79Ter) rs1554702608
NM_000380.4(XPA):c.246del (p.Glu83fs)
NM_000380.4(XPA):c.283+1G>A
NM_000380.4(XPA):c.283+1_283+6del rs1554702597
NM_000380.4(XPA):c.2T>C (p.Met1Thr) rs1253496792
NM_000380.4(XPA):c.322del (p.Cys108fs)
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr) rs104894131
NM_000380.4(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000380.4(XPA):c.378T>G (p.Cys126Trp) rs1451780491
NM_000380.4(XPA):c.389+1G>A rs1554701931
NM_000380.4(XPA):c.389G>A (p.Arg130Lys) rs1324310300
NM_000380.4(XPA):c.391del (p.Asp131fs) rs1554701563
NM_000380.4(XPA):c.428_429del (p.Glu143fs) rs1554701540
NM_000380.4(XPA):c.438_443del (p.Gln146_Tyr148delinsHis) rs1564045331
NM_000380.4(XPA):c.451A>T (p.Lys151Ter) rs1554701532
NM_000380.4(XPA):c.459_460del (p.Cys153_Asp154delinsTer) rs1240801740
NM_000380.4(XPA):c.472dup (p.Arg158fs) rs1554701520
NM_000380.4(XPA):c.476_477del (p.Glu159fs) rs781195170
NM_000380.4(XPA):c.489del (p.Lys163fs)
NM_000380.4(XPA):c.532dup (p.Met178fs) rs1326841833
NM_000380.4(XPA):c.548del (p.Lys183fs) rs1554701488
NM_000380.4(XPA):c.555+1G>A rs1554701481
NM_000380.4(XPA):c.555+2T>A rs1554701478
NM_000380.4(XPA):c.563del (p.Lys188fs) rs1554701152
NM_000380.4(XPA):c.572_573del (p.Leu191fs) rs1554701144
NM_000380.4(XPA):c.574G>T (p.Glu192Ter)
NM_000380.4(XPA):c.599T>G (p.Leu200Ter) rs755803064
NM_000380.4(XPA):c.601_602del (p.Glu201fs) rs1554701139
NM_000380.4(XPA):c.601_605del (p.Glu201fs)
NM_000380.4(XPA):c.631C>T (p.Arg211Ter) rs149226993
NM_000380.4(XPA):c.631dup (p.Arg211fs) rs1554701129
NM_000380.4(XPA):c.648_649del (p.Lys217fs) rs1057519018
NM_000380.4(XPA):c.666dup (p.Val223fs) rs1554701103
NM_000380.4(XPA):c.673+1G>A rs2131393093
NM_000380.4(XPA):c.673+2T>C rs1019535182
NM_000380.4(XPA):c.674-2A>G
NM_000380.4(XPA):c.677T>A (p.Leu226Ter) rs1554699334
NM_000380.4(XPA):c.732dup (p.Glu245Ter) rs1554699296
NM_000380.4(XPA):c.743del (p.Pro248fs)
NM_000380.4(XPA):c.759dup (p.Asp254fs)
NM_000380.4(XPA):c.771_775del (p.Tyr257_Lys259delinsTer)
NM_000380.4(XPA):c.772_785del (p.Arg258fs) rs778543124

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