ClinVar Miner

List of variants reported as benign for hereditary photodermatosis by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04381
NM_000123.4(ERCC5):c.1440C>T (p.His480=) rs4150316 0.03197
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg) rs4150313 0.02531
NM_000123.4(ERCC5):c.429C>G (p.Leu143=) rs4140390 0.02517
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) rs1047769 0.02515
NM_000123.4(ERCC5):c.960C>T (p.Asp320=) rs4150314 0.00932
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253

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