ClinVar Miner

List of variants reported as pathogenic for peripheral neuropathy by Kariminejad - Najmabadi Pathology & Genetics Center

Included ClinVar conditions (524):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619 0.00064
NM_181882.3(PRX):c.1090C>T (p.Arg364Ter) rs144183238 0.00005
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060 0.00001
NM_000166.6(GJB1):c.46C>G (p.His16Asp) rs2147944895
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_002180.3(IGHMBP2):c.449+1G>T rs797044802
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_006158.5(NEFL):c.803T>C (p.Leu268Pro) rs62636502
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294

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