ClinVar Miner

List of variants reported as benign for Xeroderma pigmentosum, group D by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.468A>C (p.Arg156=) rs238406 0.64842
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_000400.4(ERCC2):c.2133C>T (p.Asp711=) rs1052555 0.25433
NM_000400.4(ERCC2):c.718+6G>T rs3916812 0.03337
NM_177417.3(KLC3):c.*101C>G rs3916891 0.01399
NM_000400.4(ERCC2):c.477+9A>C rs1799785 0.00851
NM_000400.4(ERCC2):c.2190+12G>A rs3916881 0.00366
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile) rs141457460 0.00001

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