ClinVar Miner

List of variants in gene combination AXDND1, NPHS2 reported as likely benign for not provided

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Gene type:
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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.1038A>G (p.Leu346=) rs3818587 0.08745
NM_014625.4(NPHS2):c.873+7A>G rs115778946 0.03013
NM_014625.4(NPHS2):c.891G>A (p.Ala297=) rs5005771 0.00589
NM_014625.4(NPHS2):c.874-309G>C rs186799757 0.00152
NM_014625.4(NPHS2):c.874-17C>T rs200406676 0.00016
NM_014625.4(NPHS2):c.860A>G (p.Gln287Arg) rs200042397 0.00009
NM_014625.4(NPHS2):c.852G>A (p.Ala284=) rs371664350 0.00006
NM_014625.4(NPHS2):c.885A>G (p.Ala295=) rs146940071 0.00006
NM_014625.4(NPHS2):c.874-11_874-10del rs774075788 0.00005
NM_014625.4(NPHS2):c.1113G>A (p.Glu371=) rs751795698 0.00004
NM_014625.4(NPHS2):c.874-13A>G rs377374469 0.00004
NM_014625.4(NPHS2):c.966A>T (p.Arg322=) rs766914759 0.00004
NM_014625.4(NPHS2):c.1140T>C (p.Ser380=) rs199753342 0.00002
NM_014625.4(NPHS2):c.874-9G>A rs761497202 0.00002
NM_014625.4(NPHS2):c.879T>C (p.Ile293=) rs759792052 0.00002
NM_014625.4(NPHS2):c.897G>A (p.Lys299=) rs772297117 0.00002
NM_014625.4(NPHS2):c.1008C>T (p.Ser336=) rs756095816 0.00001
NM_014625.4(NPHS2):c.1059C>T (p.Pro353=) rs373172860 0.00001
NM_014625.4(NPHS2):c.745T>C (p.Leu249=) rs1171758025 0.00001
NM_014625.4(NPHS2):c.795-9C>A rs775451140 0.00001
NM_014625.4(NPHS2):c.822T>A (p.Leu274=) rs375017959 0.00001
NM_014625.4(NPHS2):c.990G>T (p.Leu330=) rs749236659 0.00001
NM_014625.4(NPHS2):c.1018T>C (p.Leu340=) rs1673233177
NM_014625.4(NPHS2):c.1023T>G (p.Pro341=) rs2125764416
NM_014625.4(NPHS2):c.1035C>T (p.Asp345=)
NM_014625.4(NPHS2):c.1047C>T (p.Cys349=)
NM_014625.4(NPHS2):c.1059C>A (p.Pro353=)
NM_014625.4(NPHS2):c.1080C>T (p.Ser360=) rs1008544396
NM_014625.4(NPHS2):c.1083C>G (p.Leu361=)
NM_014625.4(NPHS2):c.1083C>T (p.Leu361=)
NM_014625.4(NPHS2):c.1086C>T (p.Pro362=) rs2125763880
NM_014625.4(NPHS2):c.1104A>G (p.Lys368=)
NM_014625.4(NPHS2):c.1110T>C (p.Val370=)
NM_014625.4(NPHS2):c.739-10_739-8del rs2125780682
NM_014625.4(NPHS2):c.739-20C>T
NM_014625.4(NPHS2):c.739-6C>T rs1334364659
NM_014625.4(NPHS2):c.739-7T>C
NM_014625.4(NPHS2):c.739-9T>C
NM_014625.4(NPHS2):c.744C>T (p.Ala248=) rs2125780593
NM_014625.4(NPHS2):c.756G>T (p.Val252=) rs2125780539
NM_014625.4(NPHS2):c.765T>C (p.Ile255=) rs1673789444
NM_014625.4(NPHS2):c.771A>C (p.Gly257=) rs2125780452
NM_014625.4(NPHS2):c.783G>A (p.Glu261=)
NM_014625.4(NPHS2):c.794+13T>A
NM_014625.4(NPHS2):c.794+18T>C
NM_014625.4(NPHS2):c.794+19A>G
NM_014625.4(NPHS2):c.794+20G>A
NM_014625.4(NPHS2):c.794+7A>G rs2125780266
NM_014625.4(NPHS2):c.794+9G>A rs1673783457
NM_014625.4(NPHS2):c.794+9G>C
NM_014625.4(NPHS2):c.795-10T>C rs2125772031
NM_014625.4(NPHS2):c.795-18G>T
NM_014625.4(NPHS2):c.795-19T>G
NM_014625.4(NPHS2):c.795-9_795-6del rs1230101146
NM_014625.4(NPHS2):c.801T>C (p.Asp267=)
NM_014625.4(NPHS2):c.804G>A (p.Val268=)
NM_014625.4(NPHS2):c.807G>A (p.Arg269=) rs770495227
NM_014625.4(NPHS2):c.834G>A (p.Leu278=)
NM_014625.4(NPHS2):c.837T>C (p.Ala279=) rs1673470643
NM_014625.4(NPHS2):c.856A>C (p.Arg286=) rs1479036867
NM_014625.4(NPHS2):c.873+10C>A
NM_014625.4(NPHS2):c.873+13T>A
NM_014625.4(NPHS2):c.873+20A>G rs1410196274
NM_014625.4(NPHS2):c.873+8C>T
NM_014625.4(NPHS2):c.873+9T>G
NM_014625.4(NPHS2):c.874-10T>C rs2125765784
NM_014625.4(NPHS2):c.874-16G>T
NM_014625.4(NPHS2):c.874-4C>T
NM_014625.4(NPHS2):c.885A>C (p.Ala295=) rs146940071
NM_014625.4(NPHS2):c.885A>T (p.Ala295=)
NM_014625.4(NPHS2):c.891G>C (p.Ala297=)
NM_014625.4(NPHS2):c.891G>T (p.Ala297=)
NM_014625.4(NPHS2):c.900T>C (p.Ala300=)
NM_014625.4(NPHS2):c.915G>A (p.Leu305=)
NM_014625.4(NPHS2):c.918G>A (p.Arg306=) rs2125765355
NM_014625.4(NPHS2):c.927T>A (p.Ala309=) rs2125765300
NM_014625.4(NPHS2):c.936G>A (p.Leu312=)
NM_014625.4(NPHS2):c.936G>T (p.Leu312=) rs2125765244
NM_014625.4(NPHS2):c.939A>G (p.Ser313=)
NM_014625.4(NPHS2):c.942C>A (p.Gly314=)
NM_014625.4(NPHS2):c.942C>T (p.Gly314=)
NM_014625.4(NPHS2):c.948T>A (p.Pro316=)
NM_014625.4(NPHS2):c.948T>C (p.Pro316=)
NM_014625.4(NPHS2):c.960G>A (p.Gln320=) rs2125764979
NM_014625.4(NPHS2):c.966A>G (p.Arg322=)
NM_014625.4(NPHS2):c.987T>G (p.Ser329=)
NM_014625.4(NPHS2):c.990G>A (p.Leu330=) rs749236659

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