ClinVar Miner

List of variants in gene XPA studied for Xeroderma pigmentosum

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000380.4(XPA):c.700G>T (p.Val234Leu) rs3176749 0.00118
NM_000380.4(XPA):c.234A>G (p.Glu78=) rs144543144 0.00051
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_000380.4(XPA):c.683G>A (p.Arg228Gln) rs1805160 0.00017
NM_000380.4(XPA):c.599T>C (p.Leu200Ser) rs755803064 0.00008
NM_000380.4(XPA):c.773G>A (p.Arg258His) rs763929562 0.00006
NM_000380.4(XPA):c.390-13A>C rs373762653 0.00004
NM_000380.4(XPA):c.555+8A>G rs756967163 0.00004
NM_000380.4(XPA):c.739G>A (p.Gly247Arg) rs963248210 0.00004
NM_000380.4(XPA):c.331G>T (p.Glu111Ter) rs769255883 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.89G>A (p.Arg30Gln) rs760613920 0.00003
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.390-1G>C rs750218942 0.00001
NM_000380.4(XPA):c.429G>A (p.Glu143=) rs753411843 0.00001
NM_000380.4(XPA):c.*234_*235del rs568435573
NM_000380.4(XPA):c.15C>T (p.Asp5=) rs553043532
NM_000380.4(XPA):c.174C>A (p.Gly58=) rs748832661
NM_000380.4(XPA):c.20C>T (p.Ala7Val) rs1228453951
NM_000380.4(XPA):c.219A>C (p.Gly73=) rs927707804
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr) rs104894131
NM_000380.4(XPA):c.33G>T (p.Ala11=) rs778465643
NM_000380.4(XPA):c.349_353del (p.Leu117fs) rs1200172747
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.428_429del (p.Glu143fs) rs1554701540
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.631C>T (p.Arg211Ter) rs149226993
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.674-12dup rs770101529
NM_000380.4(XPA):c.689dup (p.Arg231fs) rs2131379218
NM_000380.4(XPA):c.759dup (p.Asp254fs)
NM_000380.4(XPA):c.771_775del (p.Tyr257_Lys259delinsTer)

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