ClinVar Miner

List of variants in gene XPA studied for DNA repair disease

Included ClinVar conditions (97):
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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP
NM_000380.3(XPA):c.*203C>G rs3176751
NM_000380.3(XPA):c.*234C>A rs3176752
NM_000380.3(XPA):c.*234_*235del rs568435573
NM_000380.3(XPA):c.*256G>C rs886063215
NM_000380.3(XPA):c.*278T>C rs3176753
NM_000380.3(XPA):c.*428T>C rs143474170
NM_000380.3(XPA):c.*77C>A rs886063216
NM_000380.3(XPA):c.-43G>A rs886063217
NM_000380.3(XPA):c.-4A>G rs1800975
NM_000380.3(XPA):c.-4_26del (p.Met1_Pro9del) rs1554703183
NM_000380.3(XPA):c.-66T>G rs886063218
NM_000380.3(XPA):c.-72_-47del rs1249073186
NM_000380.3(XPA):c.-74A>C rs3176631
NM_000380.3(XPA):c.-88C>A rs371959589
NM_000380.3(XPA):c.10del (p.Ala4fs) rs779161471
NM_000380.3(XPA):c.12_38del (p.Asp5_Ala13del) rs755109935
NM_000380.3(XPA):c.172+11C>T rs766386535
NM_000380.3(XPA):c.172+1G>A rs1554703119
NM_000380.3(XPA):c.172+1G>T rs1554703119
NM_000380.3(XPA):c.172+2T>G
NM_000380.3(XPA):c.197del (p.Pro66fs) rs1554702629
NM_000380.3(XPA):c.235G>T (p.Glu79Ter) rs1554702608
NM_000380.3(XPA):c.237_242del (p.Glu83_Glu84del) rs1554702607
NM_000380.3(XPA):c.238_240GAA[3] (p.Glu83_Glu84del) rs3176652
NM_000380.3(XPA):c.283+1_283+6del rs1554702597
NM_000380.3(XPA):c.2T>C (p.Met1Thr) rs1253496792
NM_000380.3(XPA):c.323G>A (p.Cys108Tyr) rs104894131
NM_000380.3(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000380.3(XPA):c.331G>T (p.Glu111Ter) rs769255883
NM_000380.3(XPA):c.335_338delinsCATAAGAAA (p.Phe112_Met113delinsSerTer) rs886039226
NM_000380.3(XPA):c.338_339del (p.Met113fs) rs748286715
NM_000380.3(XPA):c.344_346del (p.Ser115del) rs1554701942
NM_000380.3(XPA):c.344_348CTTAT[1] (p.Leu117fs) rs1200172747
NM_000380.3(XPA):c.348T>A (p.Tyr116Ter) rs104894134
NM_000380.3(XPA):c.378T>G (p.Cys126Trp) rs1451780491
NM_000380.3(XPA):c.389+1G>A rs1554701931
NM_000380.3(XPA):c.389G>A (p.Arg130Lys) rs1324310300
NM_000380.3(XPA):c.390-13A>C rs373762653
NM_000380.3(XPA):c.390-1G>C rs750218942
NM_000380.3(XPA):c.391del (p.Asp131fs) rs1554701563
NM_000380.3(XPA):c.397_399GAT[1] (p.Asp134del) rs1554701553
NM_000380.3(XPA):c.426_427AG[1] (p.Glu143fs) rs1554701540
NM_000380.3(XPA):c.438_443del (p.Gln146_Tyr148delinsHis) rs1564045331
NM_000380.3(XPA):c.439_441del (p.Glu147del) rs1554701535
NM_000380.3(XPA):c.451A>T (p.Lys151Ter) rs1554701532
NM_000380.3(XPA):c.457_458TG[1] (p.Cys153_Asp154delinsTer) rs1240801740
NM_000380.3(XPA):c.472_473AG[2] (p.Glu159fs) rs781195170
NM_000380.3(XPA):c.472dup (p.Arg158fs) rs1554701520
NM_000380.3(XPA):c.532dup (p.Met178fs) rs1326841833
NM_000380.3(XPA):c.545_546insTA (p.Leu182fs) rs786205205
NM_000380.3(XPA):c.548del (p.Lys183fs) rs1554701488
NM_000380.3(XPA):c.555+1G>A rs1554701481
NM_000380.3(XPA):c.555+2T>A rs1554701478
NM_000380.3(XPA):c.555G>C (p.Gln185His) rs746617574
NM_000380.3(XPA):c.563del (p.Lys188fs) rs1554701152
NM_000380.3(XPA):c.568T>G (p.Ser190Ala) rs555812588
NM_000380.3(XPA):c.571C>G (p.Leu191Val) rs562768588
NM_000380.3(XPA):c.572_573del (p.Leu191fs) rs1554701144
NM_000380.3(XPA):c.598_609dup (p.Leu200_Ala203dup) rs1554701135
NM_000380.3(XPA):c.599T>G (p.Leu200Ter) rs755803064
NM_000380.3(XPA):c.601_602del (p.Glu201fs) rs1554701139
NM_000380.3(XPA):c.619C>T (p.Arg207Ter) rs104894133
NM_000380.3(XPA):c.631C>T (p.Arg211Ter) rs149226993
NM_000380.3(XPA):c.631dup (p.Arg211fs) rs1554701129
NM_000380.3(XPA):c.642_645dup (p.Gln216fs) rs764582394
NM_000380.3(XPA):c.646C>T (p.Gln216Ter) rs761978351
NM_000380.3(XPA):c.648_649del (p.Lys217fs) rs1057519018
NM_000380.3(XPA):c.666dup (p.Val223fs) rs1554701103
NM_000380.3(XPA):c.673+2T>C rs1019535182
NM_000380.3(XPA):c.677T>A (p.Leu226Ter) rs1554699334
NM_000380.3(XPA):c.682C>T (p.Arg228Ter) rs104894132
NM_000380.3(XPA):c.683G>A (p.Arg228Gln) rs1805160
NM_000380.3(XPA):c.690_692AAG[1] (p.Arg231del) rs1554699326
NM_000380.3(XPA):c.731A>G (p.His244Arg) rs144725456
NM_000380.3(XPA):c.732dup (p.Glu245Ter) rs1554699296
NM_000380.3(XPA):c.754C>G (p.Leu252Val) rs3176750
NM_000380.3(XPA):c.756_758AGA[1] (p.Glu253del) rs758358436
NM_000380.3(XPA):c.766A>G (p.Met256Val) rs57519506
NM_000380.3(XPA):c.772_785del (p.Arg258fs) rs778543124
NM_000380.3(XPA):c.774dup (p.Lys259Ter) rs752573039
NM_000380.3(XPA):c.807_808AT[1] (p.Thr269_Tyr270insTer) rs1554699256
NM_000380.3(XPA):c.817dup (p.Met273fs) rs754458042
XPA, IVS3AS, G-C

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