ClinVar Miner

List of variants studied for hereditary peripheral neuropathy by Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)

Included ClinVar conditions (479):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys) rs746681765 0.00003
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079 0.00001
NM_000217.3(KCNA1):c.1102G>C (p.Val368Leu)
NM_005391.5(PDK3):c.473G>A (p.Arg158His) rs397515323

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