ClinVar Miner

List of variants in gene combination LOC126860130, RELN, SLC26A5 reported as likely benign for Norman-Roberts syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
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.9747C>T (p.Cys3249=) rs749356183 0.00006
NM_005045.4(RELN):c.9633G>A (p.Lys3211=) rs114211457 0.00005
NM_005045.4(RELN):c.9725C>T (p.Thr3242Met) rs763717800 0.00004
NM_005045.4(RELN):c.9594T>C (p.His3198=) rs145730672 0.00003
NM_005045.4(RELN):c.9750C>T (p.Asp3250=) rs539337691 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.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.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.9672C>T (p.His3224=) rs781754733 0.00001
NM_005045.4(RELN):c.9763+7A>C rs1236844032 0.00001
NM_005045.4(RELN):c.9444-11G>T
NM_005045.4(RELN):c.9444-17C>G
NM_005045.4(RELN):c.9447G>C (p.Ser3149=) rs770503009
NM_005045.4(RELN):c.9447G>T (p.Ser3149=)
NM_005045.4(RELN):c.9466C>G (p.Gln3156Glu)
NM_005045.4(RELN):c.9468G>A (p.Gln3156=) rs1340943020
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.9507C>T (p.Cys3169=)
NM_005045.4(RELN):c.9510C>T (p.Ser3170=)
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+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.9606-6_9606-3dup
NM_005045.4(RELN):c.9627C>A (p.Ile3209=)
NM_005045.4(RELN):c.9628C>G (p.Gln3210Glu)
NM_005045.4(RELN):c.9678C>T (p.Tyr3226=)
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

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