ClinVar Miner

List of variants reported as likely benign for Norman-Roberts syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_005045.4(RELN):c.10108A>G (p.Thr3370Ala) rs570807790
NM_005045.4(RELN):c.2352G>A (p.Thr784=) rs148510862
NM_005045.4(RELN):c.3483G>A (p.Gly1161=) rs1254504314
NM_005045.4(RELN):c.3786A>G (p.Gly1262=) rs577453361
NM_005045.4(RELN):c.408G>C (p.Leu136=) rs1554427416
NM_005045.4(RELN):c.4191C>T (p.Asn1397=) rs544646610
NM_005045.4(RELN):c.4230G>A (p.Glu1410=) rs184601053
NM_005045.4(RELN):c.5016T>C (p.Cys1672=) rs983510937
NM_005045.4(RELN):c.5352-9C>G rs758405612
NM_005045.4(RELN):c.5529+10A>T rs371510474
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239
NM_005045.4(RELN):c.577+9T>C rs750186579
NM_005045.4(RELN):c.6072+7G>T rs777197865
NM_005045.4(RELN):c.6078C>T (p.Asn2026=) rs79610081
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779
NM_005045.4(RELN):c.6147G>A (p.Ala2049=) rs116750302
NM_005045.4(RELN):c.6303-9C>T rs200658237
NM_005045.4(RELN):c.6429C>T (p.Ile2143=) rs1554374836
NM_005045.4(RELN):c.7128C>G (p.Ser2376=) rs116057819
NM_005045.4(RELN):c.7180+8T>C rs1022021889
NM_005045.4(RELN):c.7713T>C (p.Asn2571=) rs1359170573
NM_005045.4(RELN):c.8028C>T (p.Ser2676=) rs777057396
NM_005045.4(RELN):c.8951-11_8951-8dup rs1554364085
NM_005045.4(RELN):c.9105G>A (p.Gly3035=) rs1279644782
NM_005045.4(RELN):c.9172T>C (p.Leu3058=) rs2286261
NM_005045.4(RELN):c.9414C>T (p.Ser3138=) rs375427974
NM_005045.4(RELN):c.9984-9G>A rs758320422

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