ClinVar Miner

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

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Total variants: 87
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HGVS dbSNP gnomAD frequency
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.203A>T (p.Asp68Val) rs56012223 0.00010
NM_004628.5(XPC):c.1133G>A (p.Arg378Lys) rs533121927 0.00009
NM_004628.5(XPC):c.1616A>G (p.Glu539Gly) rs563236303 0.00008
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter) rs757958943 0.00005
NM_004628.5(XPC):c.17C>G (p.Ala6Gly) rs770358796 0.00005
NM_004628.5(XPC):c.877C>T (p.Arg293Ter) rs373519125 0.00005
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter) rs374117852 0.00003
NM_004628.5(XPC):c.2525A>G (p.Lys842Arg) rs559844668 0.00003
NM_004628.5(XPC):c.26G>T (p.Gly9Val) rs376802950 0.00003
NM_004628.5(XPC):c.622-2A>C rs201940931 0.00003
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) rs1450238352 0.00002
NM_004628.5(XPC):c.1455G>T (p.Arg485Ser) rs368618553 0.00002
NM_004628.5(XPC):c.2033+1G>A rs764480429 0.00002
NM_004628.5(XPC):c.1420C>T (p.Gln474Ter) rs776865296 0.00001
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_004628.5(XPC):c.299+1G>A rs1553607744 0.00001
NM_004628.5(XPC):c.362del (p.Asp121fs) rs753506183 0.00001
NM_004628.5(XPC):c.525_526del (p.Glu177fs) rs1273295928 0.00001
NM_004628.5(XPC):c.537-1G>C rs1326646197 0.00001
NM_004628.5(XPC):c.621+1G>A rs1399465960 0.00001
NM_004628.5(XPC):c.658C>T (p.Arg220Ter) rs745679643 0.00001
NM_004628.5(XPC):c.728G>A (p.Arg243Lys) rs762480645 0.00001
NM_004628.5(XPC):c.739C>T (p.Arg247Ter) rs764321665 0.00001
NM_004628.5(XPC):c.779+1G>T rs975121308 0.00001
NM_004628.5(XPC):c.103+1G>A rs1423398589
NM_004628.5(XPC):c.104-2A>G rs1696679400
NM_004628.5(XPC):c.1067_1077del (p.Asn356fs) rs2470261172
NM_004628.5(XPC):c.1102C>T (p.Gln368Ter) rs2470261046
NM_004628.5(XPC):c.1266del (p.Arg423fs) rs2125025992
NM_004628.5(XPC):c.1288dup (p.Tyr430fs) rs2470259784
NM_004628.5(XPC):c.128del (p.Pro43fs) rs1260189637
NM_004628.5(XPC):c.1306del (p.Ser436fs) rs1253035928
NM_004628.5(XPC):c.1336G>T (p.Glu446Ter) rs1696028787
NM_004628.5(XPC):c.1381G>T (p.Glu461Ter) rs754197041
NM_004628.5(XPC):c.1399C>T (p.Gln467Ter) rs2470258893
NM_004628.5(XPC):c.155C>G (p.Ser52Ter) rs1696675107
NM_004628.5(XPC):c.1593G>A (p.Trp531Ter) rs2470257940
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.1677C>G (p.Tyr559Ter) rs767569346
NM_004628.5(XPC):c.1752_1756del (p.Tyr585fs) rs2470256902
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys) rs749681216
NM_004628.5(XPC):c.1798dup (p.Ala600fs) rs2470256704
NM_004628.5(XPC):c.1872+1G>A rs1559374923
NM_004628.5(XPC):c.1872+1G>C rs1559374923
NM_004628.5(XPC):c.1939_1942del (p.Tyr647fs) rs2470251738
NM_004628.5(XPC):c.1946T>C (p.Leu649Pro) rs1695909488
NM_004628.5(XPC):c.2010T>A (p.Cys670Ter) rs781023624
NM_004628.5(XPC):c.2034-2A>G rs2470238559
NM_004628.5(XPC):c.2047_2048del (p.Thr683fs) rs1574954584
NM_004628.5(XPC):c.2050_2051del (p.Leu684fs) rs765641981
NM_004628.5(XPC):c.2115+1G>C rs2470237973
NM_004628.5(XPC):c.2126_2129del (p.Gly709fs) rs1574950526
NM_004628.5(XPC):c.2153del (p.Arg718fs) rs2470227583
NM_004628.5(XPC):c.2176_2192del (p.Glu726fs) rs2470227355
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.2287del (p.Leu763fs) rs1553604559
NM_004628.5(XPC):c.2301del (p.Met767fs) rs2470225927
NM_004628.5(XPC):c.2331dup (p.Asn778fs) rs1553604552
NM_004628.5(XPC):c.2420+2T>C rs778987248
NM_004628.5(XPC):c.2421-2A>G rs2470222942
NM_004628.5(XPC):c.2421_2440del20 (p.Thr808fs) rs2470222783
NM_004628.5(XPC):c.2432_2435dup (p.Val813fs) rs2470222842
NM_004628.5(XPC):c.2515A>T (p.Lys839Ter) rs765684436
NM_004628.5(XPC):c.2552dup (p.Ala852fs) rs2470219549
NM_004628.5(XPC):c.2605-2A>G rs1553604251
NM_004628.5(XPC):c.342_343del (p.Ala116fs) rs1228981894
NM_004628.5(XPC):c.368del (p.Asn123fs) rs1553607419
NM_004628.5(XPC):c.385dup (p.Ser129fs) rs2470295662
NM_004628.5(XPC):c.420_423del (p.Glu141fs) rs1330667099
NM_004628.5(XPC):c.463C>T (p.Arg155Ter) rs755825264
NM_004628.5(XPC):c.514C>T (p.Gln172Ter) rs778940656
NM_004628.5(XPC):c.55C>T (p.Gln19Ter) rs1553608637
NM_004628.5(XPC):c.566_567del (p.Tyr189fs) rs752088918
NM_004628.5(XPC):c.622-2A>G rs201940931
NM_004628.5(XPC):c.673_692dup (p.Ile232fs) rs2470281037
NM_004628.5(XPC):c.780-2A>G rs1696314718
NM_004628.5(XPC):c.780-2A>T rs1696314718
NM_004628.5(XPC):c.861dup (p.Ala288fs) rs2470278321
NM_004628.5(XPC):c.958C>T (p.Gln320Ter) rs867461743
NM_004628.5(XPC):c.977C>G (p.Ser326Ter) rs924205965
NM_004628.5(XPC):c.990+1G>A rs2470264146
NM_004628.5(XPC):c.991-2A>C rs1553605894
NM_004628.5(XPC):c.992del rs2470261796

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