ClinVar Miner

List of variants in gene INF2 studied for Focal segmental glomerulosclerosis

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.2310+8del rs3840006 0.58720
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065 0.01930
NM_022489.4(INF2):c.2571C>T (p.Ser857=) rs62640005 0.01396
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758 0.01192
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867 0.01185
NM_022489.4(INF2):c.3069C>T (p.Pro1023=) rs75382114 0.00477
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln) rs200369827 0.00126
NM_022489.4(INF2):c.1929C>T (p.Ile643=) rs756712490 0.00026
NM_022489.4(INF2):c.354C>T (p.Ile118=) rs771038193 0.00009
NM_022489.4(INF2):c.798C>G (p.Val266=) rs375005967 0.00009
NM_022489.4(INF2):c.3435C>T (p.Ala1145=) rs780026536 0.00003
NM_022489.4(INF2):c.2863G>C (p.Glu955Gln) rs1440140886 0.00001
NM_022489.4(INF2):c.1262CACCCC[3] (p.Pro427_Pro428del) rs573567814
NM_022489.4(INF2):c.1377G>C (p.Pro459=) rs776870726
NM_022489.4(INF2):c.391+6C>T rs75115369
NM_022489.4(INF2):c.542T>G (p.Val181Gly) rs2140648160
NM_022489.4(INF2):c.607G>A (p.Ala203Thr) rs1213058223

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