ClinVar Miner

List of variants studied for Xeroderma pigmentosum group A

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Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_000380.4(XPA):c.-4A>G rs1800975 0.70140
NM_004628.5(XPC):c.2605-40A>G rs2733532 0.65805
NM_004628.5(XPC):c.2251-6A>C rs2279017 0.64290
NM_004628.5(XPC):c.-27G>C rs2607775 0.42677
NM_004628.5(XPC):c.2604+28C>G rs2733534 0.41913
NM_004628.5(XPC):c.621+44C>G rs3729587 0.34174
NM_004628.5(XPC):c.2061G>A (p.Arg687=) rs2227998 0.26212
NM_004628.5(XPC):c.1496C>T (p.Ala499Val) rs2228000 0.21224
NM_000380.4(XPA):c.*203C>G rs3176751 0.12539
NM_004628.5(XPC):c.901-22A>G rs3731125 0.07731
NM_000380.4(XPA):c.*278T>C rs3176753 0.04443
NM_004628.5(XPC):c.1475G>A (p.Arg492His) rs2227999 0.03986
NM_004628.5(XPC):c.622-16C>G rs3731111 0.02487
NM_004628.5(XPC):c.300G>A (p.Arg100=) rs2228002 0.02396
NM_004628.5(XPC):c.142C>T (p.Leu48Phe) rs2229089 0.02177
NM_000380.4(XPA):c.*234C>A rs3176752 0.01979
NM_004628.5(XPC):c.46C>G (p.Leu16Val) rs1870134 0.01876
NM_000380.4(XPA):c.754C>G (p.Leu252Val) rs3176750 0.01065
NM_000380.4(XPA):c.766A>G (p.Met256Val) rs57519506 0.00899
NM_004628.5(XPC):c.780-15C>T rs3731116 0.00344
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_000380.4(XPA):c.*428T>C rs143474170 0.00029
NM_000380.4(XPA):c.289G>A (p.Val97Ile) rs10983315 0.00019
NM_000380.4(XPA):c.683G>A (p.Arg228Gln) rs1805160 0.00017
NM_000380.3(XPA):c.-88C>A rs371959589 0.00013
NM_000380.4(XPA):c.172+11C>T rs766386535 0.00009
NM_000380.4(XPA):c.599T>C (p.Leu200Ser) rs755803064 0.00008
NM_000380.4(XPA):c.731A>G (p.His244Arg) rs144725456 0.00008
NM_000380.4(XPA):c.122C>T (p.Ala41Val) rs778289269 0.00006
NM_000380.4(XPA):c.*256G>C rs886063215 0.00005
NM_000380.4(XPA):c.772C>T (p.Arg258Cys) rs188860873 0.00005
NM_000380.4(XPA):c.47A>G (p.Gln16Arg) rs756527969 0.00004
NM_000380.4(XPA):c.555+8A>G rs756967163 0.00004
NM_000380.4(XPA):c.571C>G (p.Leu191Val) rs562768588 0.00004
NM_000380.3(XPA):c.-66T>G rs886063218 0.00003
NM_000380.4(XPA):c.331G>T (p.Glu111Ter) rs769255883 0.00003
NM_000380.4(XPA):c.774T>A (p.Arg258=) rs746694561 0.00003
NM_000380.4(XPA):c.*178A>C rs963196708 0.00002
NM_000380.4(XPA):c.555G>C (p.Gln185His) rs746617574 0.00002
NM_000380.4(XPA):c.568T>G (p.Ser190Ala) rs555812588 0.00002
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 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_000380.3(XPA):c.-50G>T rs1237254220 0.00001
NM_000380.4(XPA):c.*439G>C rs548728905 0.00001
NM_000380.4(XPA):c.*54T>C rs557709427 0.00001
NM_000380.4(XPA):c.-43G>A rs886063217 0.00001
NM_000380.4(XPA):c.13G>T (p.Asp5Tyr) rs574504791 0.00001
NM_000380.4(XPA):c.338_339del (p.Met113fs) rs748286715 0.00001
NM_000380.4(XPA):c.390-1G>C rs750218942 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_000380.3(XPA):c.-72_-47del rs1249073186
NM_000380.3(XPA):c.-74A>C rs3176631
NM_000380.4(XPA):c.*236G>A rs1828314205
NM_000380.4(XPA):c.*77C>A rs886063216
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.12_38del (p.Asp5_Ala13del) rs755109935
NM_000380.4(XPA):c.172+1G>A rs1554703119
NM_000380.4(XPA):c.172+1G>T rs1554703119
NM_000380.4(XPA):c.172+2T>G rs1587755557
NM_000380.4(XPA):c.197del (p.Pro66fs) rs1554702629
NM_000380.4(XPA):c.235G>T (p.Glu79Ter) rs1554702608
NM_000380.4(XPA):c.237_242del (p.Glu83_Glu84del) rs1554702607
NM_000380.4(XPA):c.238GAA[3] (p.Glu83_Glu84del) rs3176652
NM_000380.4(XPA):c.266_267dup (p.Val90fs) rs759052378
NM_000380.4(XPA):c.283+1_283+6del rs1554702597
NM_000380.4(XPA):c.284-7_284-6del
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.335_338delinsCATAAGAAA (p.Phe112_Met113delinsSerTer) rs886039226
NM_000380.4(XPA):c.344_346del (p.Ser115del) rs1554701942
NM_000380.4(XPA):c.348T>A (p.Tyr116Ter) rs104894134
NM_000380.4(XPA):c.349_353del (p.Leu117fs) rs1200172747
NM_000380.4(XPA):c.374del (p.Thr125fs) rs1828818571
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.397GAT[1] (p.Asp134del) rs1554701553
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.439_441del (p.Glu147del) rs1554701535
NM_000380.4(XPA):c.451A>T (p.Lys151Ter) rs1554701532
NM_000380.4(XPA):c.452A>G (p.Lys151Arg) rs983722547
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.494T>C (p.Ile165Thr) rs1828743987
NM_000380.4(XPA):c.520C>T (p.Gln174Ter)
NM_000380.4(XPA):c.532dup (p.Met178fs) rs1326841833
NM_000380.4(XPA):c.540_541del (p.Tyr181fs) rs2131396482
NM_000380.4(XPA):c.545_546insTA (p.Leu182fs) rs786205205
NM_000380.4(XPA):c.548del (p.Lys183fs) rs1554701488
NM_000380.4(XPA):c.553C>T (p.Gln185Ter) rs1828741490
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.598_609dup (p.Leu200_Ala203dup) rs1554701135
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.631C>T (p.Arg211Ter) rs149226993
NM_000380.4(XPA):c.631dup (p.Arg211fs) rs1554701129
NM_000380.4(XPA):c.640dup (p.Met214fs)
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+2T>C rs1019535182
NM_000380.4(XPA):c.677T>A (p.Leu226Ter) rs1554699334
NM_000380.4(XPA):c.690AAG[1] (p.Arg231del) rs1554699326
NM_000380.4(XPA):c.732dup (p.Glu245Ter) rs1554699296
NM_000380.4(XPA):c.733G>A (p.Glu245Lys)
NM_000380.4(XPA):c.743del (p.Pro248fs)
NM_000380.4(XPA):c.756AGA[1] (p.Glu253del) rs758358436
NM_000380.4(XPA):c.759dup (p.Asp254fs)
NM_000380.4(XPA):c.772_785del (p.Arg258fs) rs778543124
NM_000380.4(XPA):c.809_810del (p.Thr269_Tyr270insTer) rs1554699256
NM_000380.4(XPA):c.817dup (p.Met273fs) rs754458042
NM_004628.5(XPC):c.2034-1G>A rs869025275
NM_004628.5(XPC):c.2251-37C>G rs2470353

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