ClinVar Miner

List of variants in gene GLIS2 reported as benign for Nephronophthisis 7

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_032575.3(GLIS2):c.864T>C (p.Tyr288=) rs669561 0.97986
NM_032575.3(GLIS2):c.1311A>C (p.Ala437=) rs3810817 0.27719
NM_032575.3(GLIS2):c.*614G>A rs653539 0.10219
NM_032575.3(GLIS2):c.1474A>G (p.Thr492Ala) rs8057701 0.06483
NM_032575.3(GLIS2):c.-11G>A rs28449480 0.05644
NM_032575.3(GLIS2):c.*1333C>G rs11544635 0.03314
NM_032575.3(GLIS2):c.223G>T (p.Ala75Ser) rs72766563 0.01854
NM_032575.3(GLIS2):c.*173G>A rs139029261 0.01688
NM_032575.3(GLIS2):c.*232T>G rs114705511 0.01317
NM_032575.3(GLIS2):c.*1130G>A rs7197512 0.01011
NM_032575.3(GLIS2):c.1259C>T (p.Pro420Leu) rs75495782 0.00923
NM_032575.3(GLIS2):c.*278C>T rs116692282 0.00854
NM_032575.3(GLIS2):c.894C>T (p.Pro298=) rs112926217 0.00791
NM_032575.3(GLIS2):c.775+20C>T rs116598071 0.00297
NM_032575.3(GLIS2):c.1011G>A (p.Pro337=) rs200814551 0.00156
NM_032575.3(GLIS2):c.1010C>T (p.Pro337Leu) rs140544340 0.00128
NM_032575.3(GLIS2):c.*1176C>T rs150762287 0.00056
NM_032575.3(GLIS2):c.1350G>A (p.Ser450=) rs150464446 0.00046

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