ClinVar Miner

List of variants in gene XPA reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000380.4(XPA):c.497T>C (p.Val166Ala) rs143374902 0.00307
NM_000380.4(XPA):c.696C>T (p.Ser232=) rs368677003 0.00003
NM_000380.4(XPA):c.12C>T (p.Ala4=) rs377130468 0.00002
NM_000380.4(XPA):c.507T>C (p.Asn169=) rs374056889 0.00001
NM_000380.4(XPA):c.545_546dup (p.Lys183Ter) rs757098056 0.00001
NM_000380.4(XPA):c.129G>A (p.Leu43=)
NM_000380.4(XPA):c.284-3T>A
NM_000380.4(XPA):c.619C>A (p.Arg207=)
NM_000380.4(XPA):c.674-12dup rs770101529
NM_000380.4(XPA):c.757G>C (p.Glu253Gln) rs1587736013
NM_000380.4(XPA):c.772_785del (p.Arg258fs) rs778543124

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