ClinVar Miner

List of variants studied for Trichohepatoenteric syndrome 2

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Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_006929.5(SKIC2):c.3201T>C (p.Tyr1067=) rs410851 0.79487
NM_006929.5(SKIC2):c.545-19T>C rs419788 0.77931
NM_006929.5(SKIC2):c.640A>C (p.Met214Leu) rs437179 0.77931
NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val) rs449643 0.19166
NM_006929.5(SKIC2):c.1972-42T>C rs492899 0.15070
NM_006929.5(SKIC2):c.452A>G (p.Gln151Arg) rs438999 0.11951
NM_006929.5(SKIC2):c.2659G>A (p.Asp887Asn) rs3911893 0.05545
NM_006929.5(SKIC2):c.1200A>G (p.Thr400=) rs2734331 0.03599
NM_006929.5(SKIC2):c.1041C>T (p.Ala347=) rs35664695 0.02347
NM_006929.5(SKIC2):c.2749G>A (p.Val917Met) rs106287 0.02102
NM_006929.5(SKIC2):c.970C>T (p.Arg324Trp) rs36038685 0.01237
NM_006929.5(SKIC2):c.279C>G (p.Val93=) rs11541400 0.00655
NM_006929.5(SKIC2):c.1173G>A (p.Pro391=) rs61761945 0.00370
NM_006929.5(SKIC2):c.2574G>A (p.Val858=) rs139281450 0.00350
NM_006929.5(SKIC2):c.2203-12A>G rs114974766 0.00222
NM_006929.5(SKIC2):c.2211G>A (p.Pro737=) rs2280773 0.00198
NM_006929.5(SKIC2):c.1705G>A (p.Val569Met) rs144147284 0.00185
NM_006929.5(SKIC2):c.3666G>A (p.Leu1222=) rs142860816 0.00168
NM_006929.5(SKIC2):c.*19T>C rs2075702 0.00094
NM_006929.5(SKIC2):c.384T>C (p.Ala128=) rs3895064 0.00093
NM_006929.5(SKIC2):c.741C>G (p.Cys247Trp) rs149410050 0.00093
NM_006929.5(SKIC2):c.23-14A>T rs145129911 0.00092
NM_006929.5(SKIC2):c.1020T>C (p.Val340=) rs61761944 0.00058
NM_006929.5(SKIC2):c.774A>G (p.Glu258=) rs143738551 0.00045
NM_006929.5(SKIC2):c.254C>T (p.Thr85Met) rs146717555 0.00028
NM_006929.5(SKIC2):c.1341C>T (p.His447=) rs771281472 0.00019
NM_006929.5(SKIC2):c.791A>T (p.Glu264Val) rs200318261 0.00019
NM_006929.5(SKIC2):c.3159T>C (p.Pro1053=) rs149774440 0.00016
NM_006929.5(SKIC2):c.585C>T (p.Asp195=) rs145042380 0.00014
NM_006929.5(SKIC2):c.3187C>T (p.Arg1063Ter) rs138923214 0.00013
NM_006929.5(SKIC2):c.3430C>T (p.Arg1144Trp) rs146401600 0.00013
NM_006929.5(SKIC2):c.1120C>T (p.Arg374Ter) rs200818962 0.00011
NM_006929.5(SKIC2):c.3070-7T>C rs201101301 0.00011
NM_006929.5(SKIC2):c.2662_2663del (p.Arg888fs) rs770099418 0.00009
NM_006929.5(SKIC2):c.1376A>G (p.Asn459Ser) rs149518958 0.00006
NM_006929.5(SKIC2):c.1404-15C>G rs764954300 0.00006
NM_006929.5(SKIC2):c.1132G>A (p.Gly378Arg) rs776131482 0.00004
NM_006929.5(SKIC2):c.1694C>T (p.Ala565Val) rs746401418 0.00004
NM_006929.5(SKIC2):c.1890C>T (p.Arg630=) rs779331758 0.00004
NM_006929.5(SKIC2):c.2764C>G (p.Pro922Ala) rs142436411 0.00004
NM_006929.5(SKIC2):c.954C>T (p.Ala318=) rs577271106 0.00004
NM_006929.5(SKIC2):c.990C>T (p.Val330=) rs778024754 0.00004
NM_006929.5(SKIC2):c.1243C>T (p.Arg415Trp) rs138507648 0.00003
NM_006929.5(SKIC2):c.2165G>A (p.Arg722Gln) rs768031925 0.00003
NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter) rs759511516 0.00003
NM_006929.5(SKIC2):c.2566T>C (p.Leu856=) rs774246307 0.00003
NM_006929.5(SKIC2):c.2704G>A (p.Val902Met) rs578239723 0.00003
NM_006929.5(SKIC2):c.3077A>G (p.Lys1026Arg) rs373527237 0.00003
NM_006929.5(SKIC2):c.3540+7A>G rs767834988 0.00003
NM_006929.5(SKIC2):c.3719C>T (p.Ala1240Val) rs774251531 0.00003
NM_006929.5(SKIC2):c.1145T>A (p.Leu382Gln) rs764335100 0.00002
NM_006929.5(SKIC2):c.2068C>T (p.Arg690Trp) rs751980634 0.00002
NM_006929.5(SKIC2):c.2401A>G (p.Met801Val) rs369020218 0.00002
NM_006929.5(SKIC2):c.2446G>A (p.Glu816Lys) rs746407907 0.00002
NM_006929.5(SKIC2):c.380C>T (p.Ser127Leu) rs140350010 0.00002
NM_006929.5(SKIC2):c.757C>T (p.Arg253Ter) rs768503878 0.00002
NM_006929.5(SKIC2):c.848G>A (p.Trp283Ter) rs751026211 0.00002
NM_006929.5(SKIC2):c.120G>A (p.Glu40=) rs886061305 0.00001
NM_006929.5(SKIC2):c.1297C>T (p.Arg433Cys) rs750250320 0.00001
NM_006929.5(SKIC2):c.1927C>T (p.Leu643Phe) rs761742617 0.00001
NM_006929.5(SKIC2):c.1965G>C (p.Leu655=) rs765798583 0.00001
NM_006929.5(SKIC2):c.2340+13G>A rs777138745 0.00001
NM_006929.5(SKIC2):c.2341-2A>G rs781763471 0.00001
NM_006929.5(SKIC2):c.2464C>G (p.Gln822Glu) rs1244150559 0.00001
NM_006929.5(SKIC2):c.2703C>T (p.Leu901=) rs748012447 0.00001
NM_006929.5(SKIC2):c.3213G>A (p.Ala1071=) rs374744199 0.00001
NM_006929.5(SKIC2):c.3310C>T (p.Arg1104Trp) rs780107431 0.00001
NM_006929.5(SKIC2):c.3409C>T (p.Arg1137Cys) rs553733225 0.00001
NM_006929.5(SKIC2):c.3711C>T (p.Ile1237=) rs565424838 0.00001
NM_006929.5(SKIC2):c.382G>A (p.Ala128Thr) rs1338384643 0.00001
NM_006929.5(SKIC2):c.422C>T (p.Ala141Val) rs146543642 0.00001
NM_006929.5(SKIC2):c.901C>T (p.Pro301Ser) rs565958554 0.00001
NM_006929.5(SKIC2):c.-14G>A rs886061304
NM_006929.5(SKIC2):c.1022T>G (p.Val341Gly) rs1582171003
NM_006929.5(SKIC2):c.1151C>T (p.Thr384Ile) rs886061307
NM_006929.5(SKIC2):c.1177G>A (p.Ala393Thr) rs1772553546
NM_006929.5(SKIC2):c.132C>T (p.Pro44=) rs886061306
NM_006929.5(SKIC2):c.1404-2A>G rs1772611373
NM_006929.5(SKIC2):c.1452del (p.Val485fs) rs750724648
NM_006929.5(SKIC2):c.1566G>A (p.Val522=) rs1772631304
NM_006929.5(SKIC2):c.1635_1636insA (p.Gly546fs) rs1562659544
NM_006929.5(SKIC2):c.1637G>A (p.Gly546Asp) rs148748996
NM_006929.5(SKIC2):c.1647+1G>A rs1772638226
NM_006929.5(SKIC2):c.1651C>T (p.Arg551Cys) rs775680687
NM_006929.5(SKIC2):c.1808T>C (p.Phe603Ser) rs886061308
NM_006929.5(SKIC2):c.1891G>A (p.Gly631Ser)
NM_006929.5(SKIC2):c.2052C>G (p.His684Gln) rs61761946
NM_006929.5(SKIC2):c.2052C>T (p.His684=) rs61761946
NM_006929.5(SKIC2):c.2060C>A (p.Ser687Tyr) rs762436773
NM_006929.5(SKIC2):c.2203-1G>A
NM_006929.5(SKIC2):c.2341-1G>T rs1772848223
NM_006929.5(SKIC2):c.2442G>C (p.Trp814Cys) rs148221996
NM_006929.5(SKIC2):c.2479-7T>C rs190972540
NM_006929.5(SKIC2):c.2731+14A>C rs1772908176
NM_006929.5(SKIC2):c.2977dup (p.Met993fs) rs1582187890
NM_006929.5(SKIC2):c.3467A>T (p.Gln1156Leu) rs747936095
NM_006929.5(SKIC2):c.354+15G>T rs755363139
NM_006929.5(SKIC2):c.3561_3581del (p.Ser1189_Leu1195del) rs1582192007
NM_006929.5(SKIC2):c.3637dup (p.Ala1213fs) rs1554292539
NM_006929.5(SKIC2):c.510_511insAGCTGAACACACGG (p.Glu171delinsSerTer)
NM_006929.5(SKIC2):c.904C>T (p.Gln302Ter) rs751074844

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