ClinVar Miner

List of variants in gene GLIS2 reported as uncertain significance for Nephronophthisis

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_032575.3(GLIS2):c.304C>T (p.Arg102Cys) rs371434004 0.00011
NM_032575.3(GLIS2):c.1177G>A (p.Gly393Arg) rs759416922 0.00009
NM_032575.3(GLIS2):c.1273G>A (p.Gly425Arg) rs199849300 0.00009
NM_032575.3(GLIS2):c.476C>T (p.Ser159Leu) rs374332556 0.00007
NM_032575.3(GLIS2):c.995G>A (p.Arg332His) rs148236093 0.00006
NM_032575.3(GLIS2):c.1129G>A (p.Gly377Ser) rs758967813 0.00005
NM_032575.3(GLIS2):c.101G>A (p.Arg34His) rs377037409 0.00003
NM_032575.3(GLIS2):c.56C>T (p.Ala19Val) rs560306322 0.00003
NM_032575.3(GLIS2):c.100C>T (p.Arg34Cys) rs369113794 0.00002
NM_032575.3(GLIS2):c.1559C>T (p.Pro520Leu) rs144263133 0.00002
NM_032575.3(GLIS2):c.1564G>A (p.Val522Met) rs901123781 0.00002
NM_032575.3(GLIS2):c.164C>T (p.Pro55Leu) rs775844299 0.00002
NM_032575.3(GLIS2):c.790G>A (p.Val264Ile) rs372331480 0.00002
NM_032575.3(GLIS2):c.*1583del rs886052000 0.00001
NM_032575.3(GLIS2):c.1033G>A (p.Gly345Ser) rs746233571 0.00001
NM_032575.3(GLIS2):c.1388C>T (p.Thr463Met) rs373198635 0.00001
NC_000016.9:g.(?_4386706)_(4387545_?)dup
NM_032575.3(GLIS2):c.*291TCC[1] rs377612419
NM_032575.3(GLIS2):c.*887G>C rs886051997
NM_032575.3(GLIS2):c.1000C>A (p.Pro334Thr)
NM_032575.3(GLIS2):c.1004C>G (p.Pro335Arg)
NM_032575.3(GLIS2):c.1042G>A (p.Val348Ile)
NM_032575.3(GLIS2):c.1061T>C (p.Ile354Thr)
NM_032575.3(GLIS2):c.1078G>A (p.Ala360Thr)
NM_032575.3(GLIS2):c.1094C>T (p.Pro365Leu) rs2053561223
NM_032575.3(GLIS2):c.1111C>A (p.Pro371Thr)
NM_032575.3(GLIS2):c.1123G>C (p.Ala375Pro)
NM_032575.3(GLIS2):c.1194_1208dup (p.Gly401_Pro405dup) rs878855164
NM_032575.3(GLIS2):c.1202G>T (p.Gly401Val) rs1433611737
NM_032575.3(GLIS2):c.1256C>T (p.Ser419Leu) rs781541345
NM_032575.3(GLIS2):c.1327G>A (p.Glu443Lys)
NM_032575.3(GLIS2):c.1393C>G (p.Leu465Val)
NM_032575.3(GLIS2):c.1393C>T (p.Leu465Phe) rs774316267
NM_032575.3(GLIS2):c.1397A>G (p.Glu466Gly)
NM_032575.3(GLIS2):c.1475C>T (p.Thr492Met) rs762640275
NM_032575.3(GLIS2):c.1480G>A (p.Val494Ile)
NM_032575.3(GLIS2):c.278A>G (p.Asn93Ser)
NM_032575.3(GLIS2):c.362G>A (p.Arg121His)
NM_032575.3(GLIS2):c.512G>A (p.Arg171His)
NM_032575.3(GLIS2):c.608G>A (p.Cys203Tyr)
NM_032575.3(GLIS2):c.628G>A (p.Ala210Thr)
NM_032575.3(GLIS2):c.706C>T (p.Arg236Cys) rs140720783
NM_032575.3(GLIS2):c.914C>T (p.Thr305Met)

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