ClinVar Miner

List of variants in gene XPC reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.2033+1G>A rs764480429 0.00002
NM_004628.5(XPC):c.2420+2T>C rs778987248 0.00001
NM_004628.5(XPC):c.991-1G>A rs1000669774 0.00001
NC_000003.11:g.(?_14188780)_(14189511_?)del
NM_004628.5(XPC):c.104-1G>T rs2125046287
NM_004628.5(XPC):c.104-1del
NM_004628.5(XPC):c.104-2A>G rs1696679400
NM_004628.5(XPC):c.1872+1G>A
NM_004628.5(XPC):c.1872+1G>C rs1559374923
NM_004628.5(XPC):c.1872+2T>C rs2125024504
NM_004628.5(XPC):c.1873-2A>G rs2125022131
NM_004628.5(XPC):c.2033+2T>C rs794729655
NM_004628.5(XPC):c.2420+1G>A
NM_004628.5(XPC):c.2421-1_2440delinsC
NM_004628.5(XPC):c.2514+2T>C
NM_004628.5(XPC):c.2515-1G>A
NM_004628.5(XPC):c.299+1G>A rs1553607744
NM_004628.5(XPC):c.300-11_300del rs2125043277
NM_004628.5(XPC):c.300-2A>C
NM_004628.5(XPC):c.413-24A>G rs794729657
NM_004628.5(XPC):c.537-1G>C rs1326646197
NM_004628.5(XPC):c.779+1G>A rs975121308
NM_004628.5(XPC):c.780-1G>A
NM_004628.5(XPC):c.780-2A>C rs1696314718
NM_004628.5(XPC):c.780-2A>T rs1696314718
NM_004628.5(XPC):c.900+1G>A rs2125035588
NM_004628.5(XPC):c.991-2A>C

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