ClinVar Miner

List of variants in gene SKIC3 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
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.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.4000A>G (p.Thr1334Ala) rs186169356 0.00009
NM_014639.4(SKIC3):c.4382A>G (p.Asp1461Gly) rs766633696 0.00001
NM_014639.4(SKIC3):c.*1C>G
NM_014639.4(SKIC3):c.1045A>G (p.Arg349Gly)
NM_014639.4(SKIC3):c.1187A>T (p.Tyr396Phe) rs142971570
NM_014639.4(SKIC3):c.1413A>G (p.Thr471=) rs1747534368
NM_014639.4(SKIC3):c.1507T>C (p.Tyr503His)
NM_014639.4(SKIC3):c.1733G>T (p.Gly578Val) rs1747497202
NM_014639.4(SKIC3):c.2494G>T (p.Gly832Cys) rs1347862457
NM_014639.4(SKIC3):c.344G>T (p.Trp115Leu)
NM_014639.4(SKIC3):c.4061A>G (p.Lys1354Arg)
NM_014639.4(SKIC3):c.4310G>T (p.Ser1437Ile) rs755895621
NM_014639.4(SKIC3):c.4460A>G (p.Gln1487Arg) rs757945497

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