ClinVar Miner

List of variants studied for Xeroderma pigmentosum group A by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000380.4(XPA):c.331G>T (p.Glu111Ter) rs769255883 0.00003
NM_000380.4(XPA):c.335_338delinsAAAGAATAC (p.Phe112_Met113delinsTer)
NM_000380.4(XPA):c.428_429del (p.Glu143fs) rs1554701540

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