ClinVar Miner

List of variants studied for hereditary peripheral neuropathy by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

Included ClinVar conditions (479):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter) rs113309941 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_000288.4(PEX7):c.294del (p.Ala100fs) rs1456007349
NM_002693.3(POLG):c.368T>G (p.Val123Gly)
NM_003477.3(PDHX):c.1061G>A (p.Gly354Asp) rs200189510

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