ClinVar Miner

List of variants in gene SKIC3 studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_014639.4(SKIC3):c.-228+8T>C rs2560277 0.45198
NM_014639.4(SKIC3):c.1309C>G (p.Leu437Val) rs17084873 0.23217
NM_014639.4(SKIC3):c.3888G>T (p.Arg1296Ser) rs2303650 0.22528
NM_014639.4(SKIC3):c.585G>A (p.Lys195=) rs73147944 0.00510
NM_014639.4(SKIC3):c.3875C>G (p.Thr1292Ser) rs138956788 0.00220
NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe) rs145496449 0.00143
NM_014639.4(SKIC3):c.1392C>T (p.Tyr464=) rs142058280 0.00135
NM_014639.4(SKIC3):c.1427C>G (p.Thr476Arg) rs148648401 0.00135
NM_014639.4(SKIC3):c.4081G>A (p.Ala1361Thr) rs532313388 0.00044
NM_014639.4(SKIC3):c.4348G>T (p.Ala1450Ser) rs143227096 0.00039
NM_014639.4(SKIC3):c.3253C>G (p.Gln1085Glu) rs202214985 0.00022
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys) rs200067423 0.00019
NM_014639.4(SKIC3):c.2125C>T (p.His709Tyr) rs140117667 0.00018
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala) rs146627706 0.00018
NM_014639.4(SKIC3):c.829G>A (p.Gly277Ser) rs200385766 0.00014
NM_014639.4(SKIC3):c.4514T>C (p.Leu1505Ser) rs376720108 0.00013
NM_014639.4(SKIC3):c.4000A>G (p.Thr1334Ala) rs186169356 0.00009
NM_014639.4(SKIC3):c.642+1G>A rs538894487 0.00008
NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter) rs140800288 0.00006
NM_014639.4(SKIC3):c.1374C>G (p.Tyr458Ter) rs373796916 0.00002
NM_014639.4(SKIC3):c.2662C>T (p.Gln888Ter) rs1269943135 0.00002
NM_014639.4(SKIC3):c.2018G>A (p.Gly673Asp) rs769075304 0.00001
NM_014639.4(SKIC3):c.4382A>G (p.Asp1461Gly) rs766633696 0.00001
NC_000005.9:g.(94830722_94833119)_(94834296_94838583)del
NC_000005.9:g.(94877085_94877518)_(94886355_94890639)del
NM_014639.4(SKIC3):c.*1C>G
NM_014639.4(SKIC3):c.1045A>G (p.Arg349Gly)
NM_014639.4(SKIC3):c.1134+1G>T rs2112344385
NM_014639.4(SKIC3):c.1166del (p.Leu389fs)
NM_014639.4(SKIC3):c.1187A>T (p.Tyr396Phe) rs142971570
NM_014639.4(SKIC3):c.1221+1G>C rs200085753
NM_014639.4(SKIC3):c.1413A>G (p.Thr471=) rs1747534368
NM_014639.4(SKIC3):c.1507T>C (p.Tyr503His)
NM_014639.4(SKIC3):c.154G>T (p.Glu52Ter)
NM_014639.4(SKIC3):c.1632+1del rs1060499527
NM_014639.4(SKIC3):c.1733G>T (p.Gly578Val) rs1747497202
NM_014639.4(SKIC3):c.1757+1G>A rs570910902
NM_014639.4(SKIC3):c.2077G>A (p.Val693Ile) rs150894862
NM_014639.4(SKIC3):c.2114+2T>A
NM_014639.4(SKIC3):c.2114+5G>A
NM_014639.4(SKIC3):c.2115-1G>A rs2112320552
NM_014639.4(SKIC3):c.2181_2182del (p.Tyr728fs)
NM_014639.4(SKIC3):c.2251C>T (p.Gln751Ter) rs387907148
NM_014639.4(SKIC3):c.231G>A (p.Trp77Ter) rs755681347
NM_014639.4(SKIC3):c.2353_2361del (p.Asn785_Tyr787del) rs1174587137
NM_014639.4(SKIC3):c.2387del (p.Thr796fs)
NM_014639.4(SKIC3):c.2494G>T (p.Gly832Cys) rs1347862457
NM_014639.4(SKIC3):c.2515+1G>C rs1060499528
NM_014639.4(SKIC3):c.2578-7_2578-3del rs746874042
NM_014639.4(SKIC3):c.2778+2T>G
NM_014639.4(SKIC3):c.2808G>A (p.Trp936Ter) rs534237033
NM_014639.4(SKIC3):c.2842G>T (p.Glu948Ter) rs2112308481
NM_014639.4(SKIC3):c.2849_2850del (p.Glu950fs) rs2112308448
NM_014639.4(SKIC3):c.3055_3056dup (p.Asn1020fs)
NM_014639.4(SKIC3):c.3272del (p.Ile1090_Leu1091insTer) rs752052886
NM_014639.4(SKIC3):c.3301C>T (p.Gln1101Ter)
NM_014639.4(SKIC3):c.3342-37del rs35823895
NM_014639.4(SKIC3):c.344G>T (p.Trp115Leu)
NM_014639.4(SKIC3):c.3635del (p.Lys1212fs)
NM_014639.4(SKIC3):c.3807del (p.Pro1270fs) rs2112260281
NM_014639.4(SKIC3):c.4061A>G (p.Lys1354Arg)
NM_014639.4(SKIC3):c.4070del (p.Pro1357fs) rs1582849807
NM_014639.4(SKIC3):c.409C>T (p.Arg137Ter) rs776321294
NM_014639.4(SKIC3):c.4102C>T (p.Gln1368Ter)
NM_014639.4(SKIC3):c.4108C>T (p.Gln1370Ter) rs2112237964
NM_014639.4(SKIC3):c.4175_4176dup (p.Val1393fs) rs1582849711
NM_014639.4(SKIC3):c.4310G>T (p.Ser1437Ile) rs755895621
NM_014639.4(SKIC3):c.439C>T (p.Gln147Ter) rs387907147
NM_014639.4(SKIC3):c.4460A>G (p.Gln1487Arg) rs757945497
NM_014639.4(SKIC3):c.4620+1G>C rs370373017
NM_014639.4(SKIC3):c.53_54del (p.Arg18fs)
NM_014639.4(SKIC3):c.772C>T (p.Gln258Ter) rs1580193741
NM_014639.4(SKIC3):c.828del (p.Ile276fs) rs766378178
NM_014639.4(SKIC3):c.831del (p.Gly277_Leu278insTer)
SKIC3, IVS28AS, G-A, -2

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