ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group C by Fulgent Genetics, Fulgent Genetics

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.1362T>C (p.Asp454=) rs3731128 0.01075
NM_004628.5(XPC):c.*624A>C rs548142411 0.00144
NM_004628.5(XPC):c.1497G>A (p.Ala499=) rs150344169 0.00123
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp) rs121965090 0.00098
NM_004628.5(XPC):c.37G>C (p.Gly13Arg) rs201273381 0.00057
NM_004628.5(XPC):c.2404G>A (p.Gly802Ser) rs200148127 0.00031
NM_004628.5(XPC):c.1022C>T (p.Ala341Val) rs192285219 0.00013
NM_004628.5(XPC):c.*156G>A rs121965092 0.00006
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_004628.5(XPC):c.2633C>G (p.Ala878Gly) rs183167499 0.00006
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) rs1450238352 0.00002
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_004628.5(XPC):c.205G>C (p.Gly69Arg) rs533660155 0.00001
NM_004628.5(XPC):c.2537G>C (p.Gly846Ala) rs55779831 0.00001
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser) rs200338014
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.463C>T (p.Arg155Ter) rs755825264
NM_004628.5(XPC):c.90GGA[6] (p.Glu34dup) rs750450365

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