ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant epilepsy with auditory features by New York Genome Center

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.6458G>A (p.Gly2153Asp) rs144387303 0.00022
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile) rs375985673 0.00009
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr) rs757915171 0.00005
NM_005097.4(LGI1):c.310G>A (p.Asp104Asn) rs145675377 0.00005
NM_005045.4(RELN):c.2466A>C (p.Arg822Ser) rs779002595 0.00004
NM_005045.4(RELN):c.8051G>A (p.Arg2684His) rs201157987 0.00004
NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys) rs768119894 0.00002
NM_005045.4(RELN):c.2313G>T (p.Gln771His) rs777581847 0.00001
NM_005045.4(RELN):c.6440A>C (p.Lys2147Thr) rs1184255602 0.00001
NM_005045.4(RELN):c.7963A>G (p.Ile2655Val) rs1829536442 0.00001
NM_005097.4(LGI1):c.1129T>C (p.Tyr377His) rs758203843 0.00001
NM_005045.4(RELN):c.2722C>A (p.Leu908Ile) rs767519770
NM_005045.4(RELN):c.8063A>T (p.Asp2688Val) rs1829532646
NM_015973.5(GAL):c.16G>A (p.Ala6Thr) rs760551954

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