ClinVar Miner

List of variants in gene XPA reported as uncertain significance for DNA repair disease

Included ClinVar conditions (124):
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000380.4(XPA):c.234A>G (p.Glu78=) rs144543144 0.00051
NM_000380.4(XPA):c.*428T>C rs143474170 0.00029
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.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.773G>A (p.Arg258His) rs763929562 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.390-13A>C rs373762653 0.00004
NM_000380.4(XPA):c.47A>G (p.Gln16Arg) rs756527969 0.00004
NM_000380.4(XPA):c.571C>G (p.Leu191Val) rs562768588 0.00004
NM_000380.4(XPA):c.739G>A (p.Gly247Arg) rs963248210 0.00004
NM_000380.3(XPA):c.-66T>G rs886063218 0.00003
NM_000380.4(XPA):c.605A>C (p.Glu202Ala) rs200956475 0.00003
NM_000380.4(XPA):c.76G>C (p.Ala26Pro) rs766444854 0.00003
NM_000380.4(XPA):c.774T>A (p.Arg258=) rs746694561 0.00003
NM_000380.4(XPA):c.89G>A (p.Arg30Gln) rs760613920 0.00003
NM_000380.4(XPA):c.*178A>C rs963196708 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_000380.3(XPA):c.-72_-47del rs1249073186
NM_000380.3(XPA):c.-74A>C rs3176631
NM_000380.4(XPA):c.*234_*235del rs568435573
NM_000380.4(XPA):c.*236G>A rs1828314205
NM_000380.4(XPA):c.*77C>A rs886063216
NM_000380.4(XPA):c.12_38del (p.Asp5_Ala13del) rs755109935
NM_000380.4(XPA):c.20C>T (p.Ala7Val) rs1228453951
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.284-7_284-6del
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.344_346del (p.Ser115del) rs1554701942
NM_000380.4(XPA):c.378T>G (p.Cys126Trp) rs1451780491
NM_000380.4(XPA):c.389G>A (p.Arg130Lys) rs1324310300
NM_000380.4(XPA):c.397GAT[1] (p.Asp134del) rs1554701553
NM_000380.4(XPA):c.439_441del (p.Glu147del) rs1554701535
NM_000380.4(XPA):c.452A>G (p.Lys151Arg) rs983722547
NM_000380.4(XPA):c.472A>C (p.Arg158=) rs2131396614
NM_000380.4(XPA):c.482C>T (p.Pro161Leu) rs1828744402
NM_000380.4(XPA):c.494T>C (p.Ile165Thr) rs1828743987
NM_000380.4(XPA):c.598_609dup (p.Leu200_Ala203dup) rs1554701135
NM_000380.4(XPA):c.690AAG[1] (p.Arg231del) rs1554699326
NM_000380.4(XPA):c.733G>A (p.Glu245Lys)
NM_000380.4(XPA):c.756AGA[1] (p.Glu253del) rs758358436
NM_000380.4(XPA):c.809_810del (p.Thr269_Tyr270insTer) rs1554699256
NM_000380.4(XPA):c.817dup (p.Met273fs) rs754458042

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