ClinVar Miner

List of variants in gene SKIV2L studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP
NM_006929.4(SKIV2L):c.-22A>T rs755276769
NM_006929.4(SKIV2L):c.-43T>C rs886061303
NM_006929.5(SKIV2L):c.*19T>C rs2075702
NM_006929.5(SKIV2L):c.-14G>A rs886061304
NM_006929.5(SKIV2L):c.1041C>T (p.Ala347=) rs35664695
NM_006929.5(SKIV2L):c.1120C>T (p.Arg374Ter) rs200818962
NM_006929.5(SKIV2L):c.1151C>T (p.Thr384Ile) rs886061307
NM_006929.5(SKIV2L):c.1173G>A (p.Pro391=) rs61761945
NM_006929.5(SKIV2L):c.1200A>G (p.Thr400=) rs2734331
NM_006929.5(SKIV2L):c.120G>A (p.Glu40=) rs886061305
NM_006929.5(SKIV2L):c.132C>T (p.Pro44=) rs886061306
NM_006929.5(SKIV2L):c.1635_1636insA (p.Gly546fs) rs1562659544
NM_006929.5(SKIV2L):c.1694C>T (p.Ala565Val) rs746401418
NM_006929.5(SKIV2L):c.1705G>A (p.Val569Met) rs144147284
NM_006929.5(SKIV2L):c.1808T>C (p.Phe603Ser) rs886061308
NM_006929.5(SKIV2L):c.1890C>T (p.Arg630=) rs779331758
NM_006929.5(SKIV2L):c.2052C>T (p.His684=) rs61761946
NM_006929.5(SKIV2L):c.2060C>A (p.Ser687Tyr) rs762436773
NM_006929.5(SKIV2L):c.2068C>T (p.Arg690Trp) rs751980634
NM_006929.5(SKIV2L):c.2165G>A (p.Arg722Gln) rs768031925
NM_006929.5(SKIV2L):c.2203-12A>G rs114974766
NM_006929.5(SKIV2L):c.2211G>A (p.Pro737=) rs2280773
NM_006929.5(SKIV2L):c.2340+13G>A rs777138745
NM_006929.5(SKIV2L):c.2341-2A>G
NM_006929.5(SKIV2L):c.2401A>G (p.Met801Val) rs369020218
NM_006929.5(SKIV2L):c.2446G>A (p.Glu816Lys) rs746407907
NM_006929.5(SKIV2L):c.254C>T (p.Thr85Met) rs146717555
NM_006929.5(SKIV2L):c.2572del (p.Gly857_Val858insTer) rs281875237
NM_006929.5(SKIV2L):c.2659G>A (p.Asp887Asn) rs3911893
NM_006929.5(SKIV2L):c.2703C>T (p.Leu901=) rs748012447
NM_006929.5(SKIV2L):c.2749G>A (p.Val917Met) rs106287
NM_006929.5(SKIV2L):c.2764C>G (p.Pro922Ala) rs142436411
NM_006929.5(SKIV2L):c.279C>G (p.Val93=) rs11541400
NM_006929.5(SKIV2L):c.3070-7T>C rs201101301
NM_006929.5(SKIV2L):c.3201T>C (p.Tyr1067=) rs410851
NM_006929.5(SKIV2L):c.3212C>T (p.Ala1071Val) rs449643
NM_006929.5(SKIV2L):c.3213G>A (p.Ala1071=) rs374744199
NM_006929.5(SKIV2L):c.3310C>T (p.Arg1104Trp) rs780107431
NM_006929.5(SKIV2L):c.3409C>T (p.Arg1137Cys) rs553733225
NM_006929.5(SKIV2L):c.3430C>T (p.Arg1144Trp) rs146401600
NM_006929.5(SKIV2L):c.3467A>T (p.Gln1156Leu) rs747936095
NM_006929.5(SKIV2L):c.3540+7A>G rs767834988
NM_006929.5(SKIV2L):c.3637dup (p.Ala1213fs) rs1554292539
NM_006929.5(SKIV2L):c.3666G>A (p.Leu1222=) rs142860816
NM_006929.5(SKIV2L):c.3711C>T (p.Ile1237=) rs565424838
NM_006929.5(SKIV2L):c.3719C>T (p.Ala1240Val) rs774251531
NM_006929.5(SKIV2L):c.384T>C (p.Ala128=) rs3895064
NM_006929.5(SKIV2L):c.422C>T (p.Ala141Val) rs146543642
NM_006929.5(SKIV2L):c.452A>G (p.Gln151Arg) rs438999
NM_006929.5(SKIV2L):c.585C>T (p.Asp195=) rs145042380
NM_006929.5(SKIV2L):c.640A>C (p.Met214Leu) rs437179
NM_006929.5(SKIV2L):c.757C>T (p.Arg253Ter) rs768503878
NM_006929.5(SKIV2L):c.774A>G (p.Glu258=) rs143738551
NM_006929.5(SKIV2L):c.791A>T (p.Glu264Val) rs200318261
NM_006929.5(SKIV2L):c.848G>A (p.Trp283Ter) rs751026211
NM_006929.5(SKIV2L):c.901C>T (p.Pro301Ser) rs565958554
NM_006929.5(SKIV2L):c.954C>T (p.Ala318=) rs577271106

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