ClinVar Miner

List of variants reported as benign for Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E by Invitae

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Total variants: 43
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HGVS dbSNP
NM_022489.4(INF2):c.1049C>T (p.Pro350Leu) rs146529868
NM_022489.4(INF2):c.1078G>A (p.Val360Ile) rs114820975
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly) rs201077878
NM_022489.4(INF2):c.1372C>T (p.Pro458Ser) rs760986113
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100
NM_022489.4(INF2):c.1452T>C (p.Cys484=) rs371775604
NM_022489.4(INF2):c.1547C>T (p.Pro516Leu) rs111589086
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
NM_022489.4(INF2):c.1587C>T (p.Pro529=) rs755649066
NM_022489.4(INF2):c.1732C>T (p.Arg578Cys) rs201593594
NM_022489.4(INF2):c.1755G>A (p.Ala585=) rs375573206
NM_022489.4(INF2):c.1773C>T (p.Asp591=) rs201853087
NM_022489.4(INF2):c.1950-10C>T rs199987321
NM_022489.4(INF2):c.2138+9G>A rs201065953
NM_022489.4(INF2):c.2322C>T (p.Thr774=) rs59751492
NM_022489.4(INF2):c.2433C>T (p.Ser811=) rs140010249
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775
NM_022489.4(INF2):c.2479C>A (p.Gln827Lys) rs4983379
NM_022489.4(INF2):c.2556G>A (p.Arg852=) rs763348932
NM_022489.4(INF2):c.2571C>T (p.Ser857=) rs62640005
NM_022489.4(INF2):c.2625C>G (p.Ala875=) rs377398103
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln) rs142678449
NM_022489.4(INF2):c.264C>T (p.Gly88=) rs201587219
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp) rs199873407
NM_022489.4(INF2):c.2999G>A (p.Ser1000Asn) rs148541427
NM_022489.4(INF2):c.3069C>T (p.Pro1023=) rs75382114
NM_022489.4(INF2):c.3078C>T (p.Ser1026=) rs377023270
NM_022489.4(INF2):c.3108T>C (p.Leu1036=) rs186075307
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln) rs200369827
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867
NM_022489.4(INF2):c.3244G>T (p.Ala1082Ser) rs143540449
NM_022489.4(INF2):c.3404C>T (p.Thr1135Met) rs3803311
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065
NM_022489.4(INF2):c.3585G>A (p.Glu1195=) rs569502255
NM_022489.4(INF2):c.3612G>A (p.Ser1204=) rs150811244
NM_022489.4(INF2):c.391+6C>T rs75115369
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758
NM_022489.4(INF2):c.507+7G>A rs201568246
NM_022489.4(INF2):c.510G>A (p.Thr170=) rs750711173
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865
NM_022489.4(INF2):c.609C>T (p.Ala203=) rs140017506
NM_022489.4(INF2):c.651G>A (p.Leu217=) rs780516674
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736

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