ClinVar Miner

List of variants studied for hereditary peripheral neuropathy by Payam Genetics Center, General Welfare Department of North Khorasan Province

Included ClinVar conditions (479):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003846.3(PEX11B):c.766C>T (p.Arg256Ter) rs782188850 0.00003
NM_000287.4(PEX6):c.2124_2127del (p.Gly709fs)
NM_024577.4(SH3TC2):c.1691A>G (p.Asp564Gly)

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