ClinVar Miner

List of variants in gene SKIC2 reported as uncertain significance for trichohepatoenteric syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_006929.5(SKIC2):c.3666G>A (p.Leu1222=) rs142860816 0.00168
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.3430C>T (p.Arg1144Trp) rs146401600 0.00013
NM_006929.4(SKIC2):c.-195C>T rs886061301 0.00006
NM_006929.4(SKIC2):c.-22A>T rs755276769 0.00006
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.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.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.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_006929.4(SKIC2):c.-43T>C rs886061303 0.00001
NM_006929.5(SKIC2):c.120G>A (p.Glu40=) rs886061305 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.2165G>A (p.Arg722Gln) rs768031925 0.00001
NM_006929.5(SKIC2):c.2340+13G>A rs777138745 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_006929.4(SKIC2):c.-193A>C rs886061302
NM_006929.5(SKIC2):c.-14G>A rs886061304
NM_006929.5(SKIC2):c.132C>T (p.Pro44=) rs886061306
NM_006929.5(SKIC2):c.1566G>A (p.Val522=) rs1772631304
NM_006929.5(SKIC2):c.1598C>T (p.Ala533Val)
NM_006929.5(SKIC2):c.1637G>A (p.Gly546Asp) rs148748996
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.2052C>G (p.His684Gln) rs61761946
NM_006929.5(SKIC2):c.2060C>A (p.Ser687Tyr) rs762436773
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.3467A>T (p.Gln1156Leu) rs747936095
NM_006929.5(SKIC2):c.354+15G>T rs755363139
NM_006929.5(SKIC2):c.3637dup (p.Ala1213fs) rs1554292539

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