ClinVar Miner

List of variants reported as pathogenic for Norman-Roberts syndrome; Familial temporal lobe epilepsy 7

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.3871C>T (p.Arg1291Ter) rs2117248586 0.00001
NM_005045.4(RELN):c.6526C>T (p.Gln2176Ter) rs1305459936 0.00001
NM_005045.4(RELN):c.6574C>T (p.Arg2192Ter) rs750279128 0.00001
NC_000007.13:g.(?_102937907)_(103629803_?)del
NC_000007.13:g.(?_103389853)_(103474139_?)del
NC_000007.13:g.(?_103629558)_(103629803_?)del
NM_005045.4(RELN):c.1475del (p.Asn492fs) rs1832979860
NM_005045.4(RELN):c.1984_1985del (p.Met662fs)
NM_005045.4(RELN):c.2075del (p.Asp692fs) rs2484803145
NM_005045.4(RELN):c.2086dup (p.Ser696fs) rs1832583187
NM_005045.4(RELN):c.2364del (p.Asp789fs) rs2117348851
NM_005045.4(RELN):c.2420G>A (p.Trp807Ter)
NM_005045.4(RELN):c.2896G>T (p.Glu966Ter) rs2484750954
NM_005045.4(RELN):c.3215del (p.Asp1072fs) rs1831725857
NM_005045.4(RELN):c.3346C>T (p.Gln1116Ter) rs1831543477
NM_005045.4(RELN):c.3378G>A (p.Trp1126Ter) rs2117255208
NM_005045.4(RELN):c.3485dup (p.Ile1163fs) rs1831540545
NM_005045.4(RELN):c.3615_3616del (p.Glu1207fs) rs2484794385
NM_005045.4(RELN):c.3856C>T (p.Arg1286Ter) rs1584326318
NM_005045.4(RELN):c.4190del (p.Asn1397fs) rs2117208388
NM_005045.4(RELN):c.4449_4450del (p.Tyr1484fs) rs2117205170
NM_005045.4(RELN):c.4510A>T (p.Arg1504Ter) rs2117204949
NM_005045.4(RELN):c.4639C>T (p.Arg1547Ter) rs2117189408
NM_005045.4(RELN):c.4726C>T (p.Arg1576Ter) rs1212988348
NM_005045.4(RELN):c.4904_4905insA (p.Met1635fs) rs2117188195
NM_005045.4(RELN):c.5115del (p.Ile1706fs) rs2484741062
NM_005045.4(RELN):c.5323C>T (p.Arg1775Ter) rs368992119
NM_005045.4(RELN):c.5455del (p.Glu1819fs) rs2484733902
NM_005045.4(RELN):c.5489del (p.Gly1830fs) rs2484733750
NM_005045.4(RELN):c.6202_6203del (p.Leu2068fs) rs1830401647
NM_005045.4(RELN):c.6338_6342dup (p.Gly2115fs) rs2484798416
NM_005045.4(RELN):c.6464C>A (p.Ser2155Ter)
NM_005045.4(RELN):c.6474del (p.Cys2159fs) rs2117139699
NM_005045.4(RELN):c.675_676del (p.Cys225_Glu226delinsTer) rs2484996309
NM_005045.4(RELN):c.6787G>T (p.Glu2263Ter) rs1830150596
NM_005045.4(RELN):c.7678C>T (p.Arg2560Ter)
NM_005045.4(RELN):c.8041C>T (p.Gln2681Ter) rs2484740883
NM_005045.4(RELN):c.8047G>T (p.Glu2683Ter) rs1829533362
NM_005045.4(RELN):c.8433del (p.Pro2812fs) rs2484714900
NM_005045.4(RELN):c.8632_8642del (p.Ser2878fs)
NM_005045.4(RELN):c.8698G>T (p.Glu2900Ter) rs2484704178
NM_005045.4(RELN):c.9052C>T (p.Arg3018Ter) rs2117021067
NM_005045.4(RELN):c.9343C>T (p.Gln3115Ter)
NM_005045.4(RELN):c.9474dup (p.Cys3159fs) rs2485717743
NM_005045.4(RELN):c.9976C>T (p.Arg3326Ter) rs751409835

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