ClinVar Miner

List of variants studied for Cockayne syndrome type 1; UV-sensitive syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 31
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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.613G>C (p.Ala205Pro) rs121434326 0.00006
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.481G>A (p.Val161Ile) rs148393161 0.00004
NM_000082.4(ERCC8):c.1041+1G>T rs1290416270 0.00001
NM_000082.4(ERCC8):c.1042-2A>G rs372237310 0.00001
NM_000082.4(ERCC8):c.174C>A (p.Tyr58Ter) rs530679736 0.00001
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr) rs281875222 0.00001
NM_000082.4(ERCC8):c.600dup (p.Ile201fs) rs1468231556 0.00001
NM_000082.4(ERCC8):c.618-1G>A rs201464610 0.00001
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg) rs770499406 0.00001
NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly) rs281875225 0.00001
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter) rs370657735 0.00001
NM_000082.4(ERCC8):c.1101del (p.Glu367fs)
NM_000082.4(ERCC8):c.162del (p.Glu55fs) rs756880941
NM_000082.4(ERCC8):c.176T>C (p.Met59Thr)
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter) rs1749618632
NM_000082.4(ERCC8):c.223_227del (p.Asn75fs) rs2112522943
NM_000082.4(ERCC8):c.2T>G (p.Met1Arg)
NM_000082.4(ERCC8):c.370_371del (p.Leu124fs)
NM_000082.4(ERCC8):c.378del (p.Trp127fs)
NM_000082.4(ERCC8):c.390T>C (p.Asn130=) rs367632666
NM_000082.4(ERCC8):c.467_468dup (p.Cys157fs)
NM_000082.4(ERCC8):c.482-1G>T
NM_000082.4(ERCC8):c.547C>T (p.Gln183Ter)
NM_000082.4(ERCC8):c.668del (p.Cys222_Leu223insTer)
NM_000082.4(ERCC8):c.68C>G (p.Ser23Ter)
NM_000082.4(ERCC8):c.718+2T>C
NM_000082.4(ERCC8):c.968C>G (p.Ser323Ter)
NM_000082.4(ERCC8):c.9del (p.Leu5fs)

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