ClinVar Miner

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

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000380.3(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000380.3(XPA):c.331G>T (p.Glu111Ter) rs769255883
NM_000380.3(XPA):c.335_338delinsCATAAGAAA (p.Phe112_Met113delinsSerTer) rs886039226
NM_000380.3(XPA):c.344_348CTTAT[1] (p.Leu117fs) rs1200172747
NM_000380.3(XPA):c.348T>A (p.Tyr116Ter) rs104894134
NM_000380.3(XPA):c.390-1G>C rs750218942
NM_000380.3(XPA):c.545_546insTA (p.Leu182fs) rs786205205
NM_000380.3(XPA):c.619C>T (p.Arg207Ter) rs104894133
NM_000380.3(XPA):c.631C>T (p.Arg211Ter) rs149226993
NM_000380.3(XPA):c.682C>T (p.Arg228Ter) rs104894132
NM_000380.3(XPA):c.772_785del (p.Arg258fs) rs778543124
XPA, IVS1DS, T-G, +2
XPA, IVS3AS, G-C

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