ClinVar Miner

List of variants studied for Cockayne syndrome type 1; UV-sensitive syndrome 2

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn) rs141845482 0.00063
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) rs121434324 0.00005
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518 0.00004
NM_000082.4(ERCC8):c.1042-2A>G rs372237310 0.00001
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg) rs770499406 0.00001
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter) rs370657735 0.00001
NM_000082.4(ERCC8):c.390T>C (p.Asn130=) rs367632666

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