ClinVar Miner

List of variants in gene SKIC2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_006929.5(SKIC2):c.279C>G (p.Val93=) rs11541400 0.00655
NM_006929.5(SKIC2):c.2574G>A (p.Val858=) rs139281450 0.00314
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.774A>G (p.Glu258=) rs143738551 0.00045
NM_006929.5(SKIC2):c.3366C>T (p.Asp1122=) rs367766486 0.00019
NM_006929.5(SKIC2):c.791A>T (p.Glu264Val) rs200318261 0.00017
NM_006929.5(SKIC2):c.3121C>T (p.Arg1041Cys) rs143205619 0.00010
NM_006929.5(SKIC2):c.2908C>T (p.Arg970Cys) rs144379005 0.00007
NM_006929.5(SKIC2):c.2957A>G (p.Asn986Ser) rs771128642 0.00003
NM_006929.5(SKIC2):c.3116G>A (p.Arg1039Gln) rs201839019 0.00003
NM_006929.5(SKIC2):c.1704C>T (p.Pro568=) rs770385536 0.00001
NM_006929.5(SKIC2):c.2350C>T (p.Gln784Ter) rs1367777385 0.00001
NM_006929.5(SKIC2):c.2000T>C (p.Met667Thr) rs892338498
NM_006929.5(SKIC2):c.2330_2331del (p.Lys777fs) rs2151813928
NM_006929.5(SKIC2):c.2442G>C (p.Trp814Cys) rs148221996
NM_006929.5(SKIC2):c.795G>A (p.Ala265=) rs759333847

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