ClinVar Miner

List of variants reported as likely pathogenic for Xeroderma pigmentosum, group C by Baylor Genetics

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Total variants: 50
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HGVS dbSNP gnomAD frequency
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.1266del (p.Arg423fs) rs2125025992
NM_004628.5(XPC):c.1288dup (p.Tyr430fs)
NM_004628.5(XPC):c.1306del (p.Ser436fs) rs1253035928
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.155C>G (p.Ser52Ter)
NM_004628.5(XPC):c.1593G>A (p.Trp531Ter)
NM_004628.5(XPC):c.1752_1756del (p.Tyr585fs)
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)
NM_004628.5(XPC):c.1798dup (p.Ala600fs)
NM_004628.5(XPC):c.1872+1G>A
NM_004628.5(XPC):c.1939_1942del (p.Tyr647fs)
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.2115+1G>C
NM_004628.5(XPC):c.2153del (p.Arg718fs)
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.2301del (p.Met767fs)
NM_004628.5(XPC):c.2331dup (p.Asn778fs) rs1553604552
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.514C>T (p.Gln172Ter)
NM_004628.5(XPC):c.525_526del (p.Glu177fs)
NM_004628.5(XPC):c.537-1G>C rs1326646197
NM_004628.5(XPC):c.55C>T (p.Gln19Ter) rs1553608637
NM_004628.5(XPC):c.621+1G>A
NM_004628.5(XPC):c.673_692dup (p.Ile232fs)
NM_004628.5(XPC):c.780-2A>G
NM_004628.5(XPC):c.780-2A>T rs1696314718
NM_004628.5(XPC):c.861dup (p.Ala288fs)
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.992del

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