ClinVar Miner

List of variants in gene XPA reported as uncertain significance by Counsyl

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000380.4(XPA):c.683G>A (p.Arg228Gln) rs1805160 0.00017
NM_000380.4(XPA):c.731A>G (p.His244Arg) rs144725456 0.00008
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.-43G>A rs886063217 0.00001
NM_000380.3(XPA):c.-72_-47del rs1249073186
NM_000380.4(XPA):c.12_38del (p.Asp5_Ala13del) rs755109935
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.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.598_609dup (p.Leu200_Ala203dup) rs1554701135
NM_000380.4(XPA):c.690AAG[1] (p.Arg231del) rs1554699326
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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