ClinVar Miner

List of variants studied for cranial nerve neuropathy by Baylor Genetics

Included ClinVar conditions (197):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met) rs141326740 0.00004
NM_032730.5(RTN4IP1):c.308G>A (p.Arg103His) rs372054380 0.00003
NM_032730.5(RTN4IP1):c.601A>T (p.Lys201Ter) rs200457692 0.00001
NM_032730.5(RTN4IP1):c.92G>C (p.Arg31Thr) rs1327054264 0.00001
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)
NM_001098.3(ACO2):c.2145CAA[1] (p.Asn716del) rs2066638829
NM_002941.4(ROBO1):c.3396TCC[1] (p.Pro1134del) rs752249344
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) rs863223953
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys) rs1565548029
NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs) rs1592631789
NM_014263.4(YME1L1):c.2060A>G (p.Lys687Arg) rs758233530
NM_025136.4(OPA3):c.301T>C (p.Tyr101His) rs1969377552
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser) rs2075231562
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) rs398122887

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