ClinVar Miner

List of variants in gene LOC126860130, RELN, SLC26A5 studied for Norman-Roberts syndrome; Familial temporal lobe epilepsy 7

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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.9714C>T (p.His3238=) rs78218774 0.01139
NM_005045.4(RELN):c.9524A>C (p.His3175Pro) rs74513461 0.00648
NM_005045.4(RELN):c.9605+19T>C rs202052256 0.00063
NM_005045.4(RELN):c.9606-15C>A rs369225933 0.00034
NM_005045.4(RELN):c.9708C>T (p.Ser3236=) rs200370282 0.00008
NM_005045.4(RELN):c.9446C>T (p.Ser3149Leu) rs773908055 0.00006
NM_005045.4(RELN):c.9747C>T (p.Cys3249=) rs749356183 0.00006
NM_005045.4(RELN):c.9478C>G (p.Leu3160Val) rs185075003 0.00005
NM_005045.4(RELN):c.9633G>A (p.Lys3211=) rs114211457 0.00005
NM_005045.4(RELN):c.9605+6T>A rs376881823 0.00004
NM_005045.4(RELN):c.9725C>T (p.Thr3242Met) rs763717800 0.00004
NM_005045.4(RELN):c.9463G>A (p.Val3155Ile) rs769668891 0.00003
NM_005045.4(RELN):c.9594T>C (p.His3198=) rs145730672 0.00003
NM_005045.4(RELN):c.9643A>G (p.Thr3215Ala) rs142094612 0.00003
NM_005045.4(RELN):c.9750C>T (p.Asp3250=) rs539337691 0.00003
NM_005045.4(RELN):c.9753G>C (p.Glu3251Asp) rs756854888 0.00003
NM_005045.4(RELN):c.9444-7T>C rs905003547 0.00002
NM_005045.4(RELN):c.9606-4T>G rs768402555 0.00002
NM_005045.4(RELN):c.9673G>A (p.Val3225Met) rs755369509 0.00002
NM_005045.4(RELN):c.9680T>C (p.Ile3227Thr) rs1186557649 0.00002
NM_005045.4(RELN):c.9729C>T (p.Thr3243=) rs145542111 0.00002
NM_005045.4(RELN):c.9756C>T (p.Ser3252=) rs1344740466 0.00002
NM_005045.4(RELN):c.9447G>A (p.Ser3149=) rs770503009 0.00001
NM_005045.4(RELN):c.9589G>A (p.Asp3197Asn) rs147777191 0.00001
NM_005045.4(RELN):c.9605+14T>C rs748000925 0.00001
NM_005045.4(RELN):c.9605+9C>T rs1395438694 0.00001
NM_005045.4(RELN):c.9664A>G (p.Ile3222Val) rs142638365 0.00001
NM_005045.4(RELN):c.9669C>G (p.Asp3223Glu) rs1442238479 0.00001
NM_005045.4(RELN):c.9672C>T (p.His3224=) rs781754733 0.00001
NM_005045.4(RELN):c.9751G>A (p.Glu3251Lys) rs376520049 0.00001
NM_005045.4(RELN):c.9763+7A>C rs1236844032 0.00001
NM_005045.4(RELN):c.9444-10G>T rs575743816
NM_005045.4(RELN):c.9444-11G>T
NM_005045.4(RELN):c.9444-12dup
NM_005045.4(RELN):c.9444-17C>G
NM_005045.4(RELN):c.9444A>G (p.Arg3148=) rs1277733317
NM_005045.4(RELN):c.9447G>C (p.Ser3149=) rs770503009
NM_005045.4(RELN):c.9447G>T (p.Ser3149=)
NM_005045.4(RELN):c.9448G>T (p.Asp3150Tyr)
NM_005045.4(RELN):c.9459G>C (p.Gln3153His) rs1554362509
NM_005045.4(RELN):c.9460C>T (p.Leu3154Phe)
NM_005045.4(RELN):c.9466C>G (p.Gln3156Glu)
NM_005045.4(RELN):c.9468G>A (p.Gln3156=) rs1340943020
NM_005045.4(RELN):c.9474dup (p.Cys3159fs)
NM_005045.4(RELN):c.9480T>C (p.Leu3160=) rs2117002286
NM_005045.4(RELN):c.9480T>G (p.Leu3160=)
NM_005045.4(RELN):c.9486C>T (p.Ser3162=) rs775810751
NM_005045.4(RELN):c.9492T>A (p.Ser3164=)
NM_005045.4(RELN):c.9497G>A (p.Ser3166Asn) rs1828622359
NM_005045.4(RELN):c.9499A>T (p.Ile3167Phe) rs2117002216
NM_005045.4(RELN):c.9505T>G (p.Cys3169Gly) rs1394617861
NM_005045.4(RELN):c.9507C>T (p.Cys3169=)
NM_005045.4(RELN):c.9510C>T (p.Ser3170=)
NM_005045.4(RELN):c.9520T>C (p.Phe3174Leu)
NM_005045.4(RELN):c.9525T>C (p.His3175=) rs1241219063
NM_005045.4(RELN):c.9528A>G (p.Glu3176=)
NM_005045.4(RELN):c.9531C>T (p.Ala3177=) rs750621529
NM_005045.4(RELN):c.9605+16A>T
NM_005045.4(RELN):c.9605+4G>C rs1338699707
NM_005045.4(RELN):c.9605+6T>C rs376881823
NM_005045.4(RELN):c.9605+9C>G
NM_005045.4(RELN):c.9606-10G>A
NM_005045.4(RELN):c.9606-10G>T rs776436361
NM_005045.4(RELN):c.9606-14T>C
NM_005045.4(RELN):c.9606-15C>T
NM_005045.4(RELN):c.9606-17C>G
NM_005045.4(RELN):c.9606-3C>T rs376550183
NM_005045.4(RELN):c.9606-6_9606-3dup
NM_005045.4(RELN):c.9611C>T (p.Thr3204Ile)
NM_005045.4(RELN):c.9615G>T (p.Gln3205His) rs2116999262
NM_005045.4(RELN):c.9620G>A (p.Arg3207His) rs992226248
NM_005045.4(RELN):c.9627C>A (p.Ile3209=)
NM_005045.4(RELN):c.9628C>G (p.Gln3210Glu)
NM_005045.4(RELN):c.9629A>G (p.Gln3210Arg)
NM_005045.4(RELN):c.9635G>A (p.Gly3212Glu)
NM_005045.4(RELN):c.9651G>T (p.Lys3217Asn)
NM_005045.4(RELN):c.9657C>G (p.Ser3219Arg) rs1828587974
NM_005045.4(RELN):c.9659G>T (p.Trp3220Leu)
NM_005045.4(RELN):c.9665T>C (p.Ile3222Thr) rs1828587696
NM_005045.4(RELN):c.9670C>T (p.His3224Tyr)
NM_005045.4(RELN):c.9678C>T (p.Tyr3226=)
NM_005045.4(RELN):c.9688G>A (p.Ala3230Thr)
NM_005045.4(RELN):c.9689C>T (p.Ala3230Val) rs1828586673
NM_005045.4(RELN):c.9709G>A (p.Gly3237Arg) rs1584222460
NM_005045.4(RELN):c.9715G>A (p.Gly3239Arg) rs1220775268
NM_005045.4(RELN):c.9726G>A (p.Thr3242=) rs370000503
NM_005045.4(RELN):c.9726G>C (p.Thr3242=) rs370000503
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005045.4(RELN):c.9730G>C (p.Gly3244Arg) rs73714410
NM_005045.4(RELN):c.9744C>A (p.Ile3248=) rs2116998809
NM_005045.4(RELN):c.9763+20A>G
NM_005045.4(RELN):c.9763+3C>G rs398124195

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