ClinVar Miner

List of variants reported as likely benign for Norman-Roberts syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.6672-16C>T rs79610318 0.01836
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr) rs115640958 0.01215
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536 0.01065
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902 0.01040
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_005045.4(RELN):c.9524A>C (p.His3175Pro) rs74513461 0.00648
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_005045.4(RELN):c.8811G>A (p.Ala2937=) rs144728023 0.00226
NM_005045.4(RELN):c.1442-8T>C rs181761096 0.00212
NM_005045.4(RELN):c.3123C>T (p.Gly1041=) rs41276148 0.00123
NM_005045.4(RELN):c.4748-11T>C rs201494847 0.00098
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr) rs79377093 0.00084
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn) rs148509350 0.00071
NM_005045.4(RELN):c.5530-18A>G rs188302870 0.00046
NM_005045.4(RELN):c.8844-20T>C rs142002220 0.00016
NM_005045.4(RELN):c.6553A>T (p.Met2185Leu) rs114686696 0.00010
NM_005045.4(RELN):c.3147-15C>T rs773147896 0.00001
NM_005045.4(RELN):c.7182G>A (p.Ala2394=) rs879182818 0.00001
NM_005045.4(RELN):c.4257T>C (p.His1419=) rs138924805
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410

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