ClinVar Miner

List of variants reported as uncertain significance for temporal lobe epilepsy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726 0.00091
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597 0.00043
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_005045.4(RELN):c.1483A>G (p.Ile495Val) rs150850005 0.00034
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys) rs147657490 0.00032
NM_005045.4(RELN):c.2446C>T (p.Leu816Phe) rs144653976 0.00031
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln) rs199553777 0.00031
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val) rs147026512 0.00031
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) rs115577014 0.00026
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly) rs138598422 0.00025
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met) rs114190729 0.00025
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg) rs143050366 0.00024
NM_005045.4(RELN):c.59C>T (p.Thr20Met) rs145135688 0.00024
NM_020361.5(CPA6):c.1271C>T (p.Ala424Val) rs72654981 0.00024
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile) rs144978163 0.00021
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser) rs201422815 0.00021
NM_005045.4(RELN):c.2125A>G (p.Met709Val) rs114577182 0.00018
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) rs200010849 0.00017
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp) rs202166176 0.00016
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val) rs116634494 0.00014
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr) rs139225791 0.00014
NM_005045.4(RELN):c.9329G>A (p.Arg3110Gln) rs368572382 0.00014
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln) rs116463039 0.00011
NM_005045.4(RELN):c.1336G>C (p.Glu446Gln) rs56146903 0.00011
NM_005045.4(RELN):c.3667A>G (p.Lys1223Glu) rs200269227 0.00011
NM_005045.4(RELN):c.6193G>A (p.Val2065Ile) rs201627577 0.00011
NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn) rs138978280 0.00011
NM_005097.4(LGI1):c.191C>T (p.Thr64Ile) rs373616721 0.00011
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576 0.00009
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile) rs375985673 0.00009
NM_005045.4(RELN):c.697G>A (p.Ala233Thr) rs181961566 0.00008
NM_005045.4(RELN):c.10310T>C (p.Met3437Thr) rs377638585 0.00007
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter) rs139326865 0.00006
NM_005045.4(RELN):c.1669T>G (p.Phe557Val) rs757726526 0.00006
NM_005045.4(RELN):c.5246A>G (p.Asn1749Ser) rs755596079 0.00006
NM_005097.4(LGI1):c.205G>A (p.Val69Ile) rs147469708 0.00006
NM_005045.4(RELN):c.7423G>A (p.Val2475Ile) rs764015748 0.00005
NM_005097.4(LGI1):c.310G>A (p.Asp104Asn) rs145675377 0.00005
NM_005045.4(RELN):c.1649G>T (p.Arg550Met) rs773589573 0.00004
NM_005045.4(RELN):c.1817C>T (p.Thr606Ile) rs540111252 0.00004
NM_005045.4(RELN):c.7757C>T (p.Thr2586Ile) rs202172902 0.00004
NM_005045.4(RELN):c.2252A>C (p.Lys751Thr) rs116504075 0.00003
NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu) rs116225248 0.00003
NM_005045.4(RELN):c.8624C>T (p.Pro2875Leu) rs761738403 0.00003
NM_020361.5(CPA6):c.107G>T (p.Arg36Leu) rs183899632 0.00003
NM_020361.5(CPA6):c.902C>T (p.Pro301Leu) rs753468111 0.00003
NM_005045.4(RELN):c.10025C>T (p.Thr3342Met) rs201703640 0.00002
NM_005045.4(RELN):c.2260C>T (p.Arg754Trp) rs759711654 0.00002
NM_005045.4(RELN):c.7916G>A (p.Arg2639His) rs369735904 0.00002
NM_020361.5(CPA6):c.382C>T (p.Arg128Ter) rs768188762 0.00002
NM_020361.5(CPA6):c.534+4A>G rs766728291 0.00002
NM_020361.5(CPA6):c.725G>T (p.Gly242Val) rs372728943 0.00002
NM_005045.4(RELN):c.1480A>G (p.Ile494Val) rs372015884 0.00001
NM_005045.4(RELN):c.1913C>T (p.Pro638Leu) rs114993407 0.00001
NM_005045.4(RELN):c.4484C>T (p.Thr1495Met) rs369404310 0.00001
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly) rs587780439 0.00001
NM_005045.4(RELN):c.491G>A (p.Arg164Gln) rs1193525098 0.00001
NM_005045.4(RELN):c.5377T>G (p.Tyr1793Asp) rs760957004 0.00001
NM_005045.4(RELN):c.5468C>A (p.Ala1823Glu) rs1244373166
NM_005045.4(RELN):c.6976G>A (p.Asp2326Asn) rs768054802
NM_005045.4(RELN):c.8213G>A (p.Arg2738Gln) rs141115137

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