ClinVar Miner

List of variants studied for Focal segmental glomerulosclerosis 5 by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys) rs201534539 0.00033
NM_022489.4(INF2):c.1640G>A (p.Gly547Asp) rs376451593 0.00009
NM_022489.4(INF2):c.*1+1G>C rs758452999 0.00007
NM_022489.4(INF2):c.2440G>A (p.Asp814Asn) rs373532334 0.00005
NM_022489.4(INF2):c.3040+2T>C rs1437272364 0.00002
NM_022489.4(INF2):c.2908G>A (p.Val970Met) rs977752085 0.00001
NM_022489.4(INF2):c.3418G>A (p.Val1140Ile) rs199640596 0.00001
NM_022489.4(INF2):c.409G>A (p.Val137Met) rs200713451 0.00001
NM_022489.4(INF2):c.217G>A (p.Gly73Ser) rs1566777560
NM_022489.4(INF2):c.254C>G (p.Ser85Trp) rs1317776692
NM_022489.4(INF2):c.530G>A (p.Arg177His) rs1566778651
NM_022489.4(INF2):c.550G>A (p.Glu184Lys) rs1566778676
NM_022489.4(INF2):c.640C>T (p.Arg214Cys) rs912928648
NM_022489.4(INF2):c.652C>T (p.Arg218Trp) rs267606878
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015

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