ClinVar Miner

List of variants studied for xeroderma pigmentosum group D by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.1758+32C>G rs238417 0.66337
NM_000400.4(ERCC2):c.468A>C (p.Arg156=) rs238406 0.64842
NM_000400.4(ERCC2):c.247-35G>A rs1799783 0.64393
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_000400.4(ERCC2):c.718+6G>T rs3916812 0.03337
NM_000400.4(ERCC2):c.477+9A>C rs1799785 0.00851
NM_000400.4(ERCC2):c.184-16C>T rs756934153 0.00006

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