ClinVar Miner

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

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_000380.3(XPA):c.*234_*235delCA rs568435573
NM_000380.3(XPA):c.*256G>C rs886063215
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.-66T>G rs886063218
NM_000380.3(XPA):c.-72_-47del26 rs1249073186
NM_000380.3(XPA):c.-74A>C rs3176631
NM_000380.3(XPA):c.-88C>A rs371959589
NM_000380.3(XPA):c.12_38del27 (p.Asp5_Ala13del) rs755109935
NM_000380.3(XPA):c.172+11C>T rs766386535
NM_000380.3(XPA):c.237_242del6 (p.Glu83_Glu84del) rs1554702607
NM_000380.3(XPA):c.247_252del6 (p.Glu83_Glu84del) rs3176652
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.344_346delCTT (p.Ser115del) rs1554701942
NM_000380.3(XPA):c.378T>G (p.Cys126Trp) rs1451780491
NM_000380.3(XPA):c.389G>A (p.Arg130Lys) rs1324310300
NM_000380.3(XPA):c.390-13A>C rs373762653
NM_000380.3(XPA):c.400_402delGAT (p.Asp134del) rs1554701553
NM_000380.3(XPA):c.439_441delGAA (p.Glu147del) rs1554701535
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.598_609dup (p.Ala203_Lys204insLeuGluGluAla) rs1554701135
NM_000380.3(XPA):c.683G>A (p.Arg228Gln) rs1805160
NM_000380.3(XPA):c.693_695delAAG (p.Arg231del) rs1554699326
NM_000380.3(XPA):c.731A>G (p.His244Arg) rs144725456
NM_000380.3(XPA):c.759_761delAGA (p.Glu253del) rs758358436
NM_000380.3(XPA):c.809_810delAT (p.Tyr270Terfs) rs1554699256
NM_000380.3(XPA):c.817dup (p.Met273Asnfs) rs754458042

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