List of variants in gene XPC reported as likely pathogenic for Xeroderma pigmentosum, group C

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 81

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HGVS	dbSNP	gnomAD frequency
NM_004628.5(XPC):c.749A>G (p.Asp250Gly)	rs201247727	0.00040
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)	rs374117852	0.00004
NM_004628.5(XPC):c.2033+1G>A	rs764480429	0.00002
NM_004628.5(XPC):c.779+1G>T	rs975121308	0.00001
NM_004628.5(XPC):c.104-2A>G	rs1696679400
NM_004628.5(XPC):c.1067_1077del (p.Asn356fs)
NM_004628.5(XPC):c.1102C>T (p.Gln368Ter)
NM_004628.5(XPC):c.1143dup (p.Lys382fs)	rs1553605871
NM_004628.5(XPC):c.1266del (p.Arg423fs)	rs2125025992
NM_004628.5(XPC):c.1288dup (p.Tyr430fs)
NM_004628.5(XPC):c.1289_1293del (p.Ser429_Tyr430insTer)	rs1553605813
NM_004628.5(XPC):c.1293_1294insT (p.Glu432Ter)	rs1553605805
NM_004628.5(XPC):c.1306del (p.Ser436fs)	rs1253035928
NM_004628.5(XPC):c.1328_1329del (p.Gly442_Ser443insTer)	rs1553605795
NM_004628.5(XPC):c.1336G>T (p.Glu446Ter)
NM_004628.5(XPC):c.1381G>T (p.Glu461Ter)	rs754197041
NM_004628.5(XPC):c.1420C>T (p.Gln474Ter)
NM_004628.5(XPC):c.1421dup (p.Arg475fs)	rs1553605761
NM_004628.5(XPC):c.147del (p.Val51fs)	rs1553607773
NM_004628.5(XPC):c.155C>G (p.Ser52Ter)
NM_004628.5(XPC):c.1564A>T (p.Lys522Ter)	rs746250060
NM_004628.5(XPC):c.1593G>A (p.Trp531Ter)
NM_004628.5(XPC):c.1686del (p.Thr563fs)	rs1553605655
NM_004628.5(XPC):c.1750_1751del (p.Arg584fs)	rs752030576
NM_004628.5(XPC):c.1752_1756del (p.Tyr585fs)
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)
NM_004628.5(XPC):c.1769del (p.Met590fs)
NM_004628.5(XPC):c.1798dup (p.Ala600fs)
NM_004628.5(XPC):c.1872+1G>A
NM_004628.5(XPC):c.1872+1G>C	rs1559374923
NM_004628.5(XPC):c.1934del (p.Pro645fs)	rs1553605497
NM_004628.5(XPC):c.1939_1942del (p.Tyr647fs)
NM_004628.5(XPC):c.1969G>T (p.Glu657Ter)
NM_004628.5(XPC):c.2010T>A (p.Cys670Ter)	rs781023624
NM_004628.5(XPC):c.2034-2A>G
NM_004628.5(XPC):c.2047_2048del (p.Thr683fs)
NM_004628.5(XPC):c.2050_2051del (p.Leu684fs)	rs765641981
NM_004628.5(XPC):c.2101G>T (p.Glu701Ter)	rs1553605023
NM_004628.5(XPC):c.2115+1G>C
NM_004628.5(XPC):c.2116-1G>A	rs1553604620
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)	rs754775337
NM_004628.5(XPC):c.2153del (p.Arg718fs)
NM_004628.5(XPC):c.2194dup (p.Leu732fs)	rs1309116467
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs)	rs1559369237
NM_004628.5(XPC):c.2218G>T (p.Glu740Ter)	rs770308917
NM_004628.5(XPC):c.2251-2A>G	rs1553604570
NM_004628.5(XPC):c.2301del (p.Met767fs)
NM_004628.5(XPC):c.2317C>T (p.Gln773Ter)	rs1281090187
NM_004628.5(XPC):c.2331dup (p.Asn778fs)	rs1553604552
NM_004628.5(XPC):c.2336dup (p.His780fs)	rs1553604549
NM_004628.5(XPC):c.2421-2A>G
NM_004628.5(XPC):c.2421_2440del20 (p.Thr808fs)
NM_004628.5(XPC):c.2432_2435dup (p.Val813fs)
NM_004628.5(XPC):c.2515A>T (p.Lys839Ter)
NM_004628.5(XPC):c.2552dup (p.Ala852fs)
NM_004628.5(XPC):c.2605-2A>G
NM_004628.5(XPC):c.299+1G>A	rs1553607744
NM_004628.5(XPC):c.368del (p.Asn123fs)	rs1553607419
NM_004628.5(XPC):c.385dup (p.Ser129fs)
NM_004628.5(XPC):c.409dup (p.Glu137fs)	rs1208223013
NM_004628.5(XPC):c.470_471del (p.Leu157fs)	rs1574972784
NM_004628.5(XPC):c.514C>T (p.Gln172Ter)
NM_004628.5(XPC):c.515dup (p.Ala173fs)	rs1553607144
NM_004628.5(XPC):c.525_526del (p.Glu177fs)
NM_004628.5(XPC):c.537-1G>C	rs1326646197
NM_004628.5(XPC):c.618_619del (p.His206fs)	rs1553606979
NM_004628.5(XPC):c.621+1G>A
NM_004628.5(XPC):c.622-2A>G	rs201940931
NM_004628.5(XPC):c.673_692dup (p.Ile232fs)
NM_004628.5(XPC):c.779+1G>A	rs975121308
NM_004628.5(XPC):c.780-2A>G
NM_004628.5(XPC):c.780-2A>T	rs1696314718
NM_004628.5(XPC):c.856A>T (p.Arg286Ter)
NM_004628.5(XPC):c.861dup (p.Ala288fs)
NM_004628.5(XPC):c.915dup (p.Leu306fs)	rs1553605973
NM_004628.5(XPC):c.958C>T (p.Gln320Ter)	rs867461743
NM_004628.5(XPC):c.977C>G (p.Ser326Ter)
NM_004628.5(XPC):c.990+1G>A
NM_004628.5(XPC):c.991-2A>C
NM_004628.5(XPC):c.991-2A>G	rs1553605894
NM_004628.5(XPC):c.992del

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