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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 97

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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>A
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.9444-9T>C
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.9606-13G>A
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.9654A>C (p.Gln3218His)
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.9718T>C (p.Tyr3240His)
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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