ClinVar Miner

List of variants reported for Periventricular nodular heterotopia 7 by Fulgent Genetics, Fulgent Genetics

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_001144967.3(NEDD4L):c.2752+6C>T rs12964776 0.01046
NM_001144967.3(NEDD4L):c.2753-4C>T rs116251315 0.00571
NM_001144967.3(NEDD4L):c.698C>T (p.Ser233Leu) rs202231187 0.00354
NM_001144967.3(NEDD4L):c.122+9G>C rs115907798 0.00128
NM_001144967.3(NEDD4L):c.2542C>T (p.Leu848=) rs370069597 0.00099
NM_001144967.3(NEDD4L):c.813+5G>A rs199959002 0.00091
NM_001144967.3(NEDD4L):c.49-6T>C rs375043092 0.00052
NM_001144967.3(NEDD4L):c.535T>A (p.Ser179Thr) rs185533207 0.00051
NM_001144967.3(NEDD4L):c.1833+17T>C rs189511948 0.00039
NM_001144967.3(NEDD4L):c.1403G>A (p.Arg468Gln) rs200221331 0.00026
NM_001144967.3(NEDD4L):c.2488-20del rs752322832 0.00012
NM_001144967.3(NEDD4L):c.252A>G (p.Pro84=) rs368888932 0.00011
NM_001144967.3(NEDD4L):c.990+8G>C rs760145364 0.00007
NM_001144967.3(NEDD4L):c.2040C>T (p.Tyr680=) rs373128169 0.00006
NM_001144967.3(NEDD4L):c.243+12A>G rs780590670 0.00006
NM_001144967.3(NEDD4L):c.49-11C>T rs199921263 0.00006
NM_001144967.3(NEDD4L):c.2353-19T>C rs773754441 0.00005
NM_001144967.3(NEDD4L):c.285C>T (p.Asp95=) rs185602532 0.00005
NM_001144967.3(NEDD4L):c.965A>G (p.Asn322Ser) rs749019037 0.00005
NM_001144967.3(NEDD4L):c.1691C>A (p.Thr564Lys) rs769198983 0.00004
NM_001144967.3(NEDD4L):c.2186-10C>T rs764821969 0.00004
NM_001144967.3(NEDD4L):c.2273A>G (p.Asn758Ser) rs202127939 0.00004
NM_001144967.3(NEDD4L):c.2475C>T (p.Asn825=) rs368300968 0.00004
NM_001144967.3(NEDD4L):c.871C>G (p.Leu291Val) rs773477776 0.00004
NM_001144967.3(NEDD4L):c.1654-10C>G rs373387102 0.00003
NM_001144967.3(NEDD4L):c.1877A>C (p.Asn626Thr) rs1008436842 0.00003
NM_001144967.3(NEDD4L):c.2093A>G (p.Asn698Ser) rs377143286 0.00003
NM_001144967.3(NEDD4L):c.2307T>C (p.Thr769=) rs192231264 0.00003
NM_001144967.3(NEDD4L):c.410+14G>T rs745965638 0.00003
NM_001144967.3(NEDD4L):c.1316C>T (p.Pro439Leu) rs775630982 0.00002
NM_001144967.3(NEDD4L):c.1457A>G (p.Asn486Ser) rs965302278 0.00002
NM_001144967.3(NEDD4L):c.1575+13C>T rs747040965 0.00002
NM_001144967.3(NEDD4L):c.1768-12T>C rs938358563 0.00002
NM_001144967.3(NEDD4L):c.1882T>A (p.Phe628Ile) rs1477791039 0.00002
NM_001144967.3(NEDD4L):c.2202A>G (p.Pro734=) rs1394230991 0.00002
NM_001144967.3(NEDD4L):c.2665C>T (p.Leu889Phe) rs775922627 0.00002
NM_001144967.3(NEDD4L):c.2873G>A (p.Arg958Gln) rs777624478 0.00002
NM_001144967.3(NEDD4L):c.740G>A (p.Arg247Gln) rs747072217 0.00002
NM_001144967.3(NEDD4L):c.1033G>A (p.Asp345Asn) rs375898604 0.00001
NM_001144967.3(NEDD4L):c.1446A>G (p.Pro482=) rs773408353 0.00001
NM_001144967.3(NEDD4L):c.1535G>A (p.Arg512Gln) rs1365042367 0.00001
NM_001144967.3(NEDD4L):c.1676A>G (p.His559Arg) rs958611451 0.00001
NM_001144967.3(NEDD4L):c.2205T>G (p.Phe735Leu) rs1242218314 0.00001
NM_001144967.3(NEDD4L):c.2465A>C (p.Lys822Thr) rs778557607 0.00001
NM_001144967.3(NEDD4L):c.2676C>T (p.Ala892=) rs764595394 0.00001
NM_001144967.3(NEDD4L):c.328G>A (p.Val110Met) rs777311647 0.00001
NM_001144967.3(NEDD4L):c.348+9A>G rs543228992 0.00001
NM_001144967.3(NEDD4L):c.534C>G (p.Asp178Glu) rs903587997 0.00001
NM_001144967.3(NEDD4L):c.1132G>A (p.Val378Met) rs2145157218
NM_001144967.3(NEDD4L):c.1483A>G (p.Thr495Ala) rs1297218616
NM_001144967.3(NEDD4L):c.1523C>T (p.Ala508Val) rs573738976
NM_001144967.3(NEDD4L):c.1607T>G (p.Met536Arg) rs369952868
NM_001144967.3(NEDD4L):c.2488-8del rs751368482
NM_001144967.3(NEDD4L):c.2488-8dup rs751368482
NM_001144967.3(NEDD4L):c.2488-9_2488-8del rs751368482
NM_001144967.3(NEDD4L):c.349-3C>A rs767138884
NM_001144967.3(NEDD4L):c.48+11C>G rs751788981
NM_001144967.3(NEDD4L):c.48+14C>A rs372316024
NM_001144967.3(NEDD4L):c.48+14C>T rs372316024
NM_001144967.3(NEDD4L):c.812A>C (p.Glu271Ala) rs1404724194

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