ClinVar Miner

List of variants reported as pathogenic for hereditary peripheral neuropathy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (479):
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NC_000022.10:g.38522454delG rs587784329 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) rs200075782 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) rs587784339 0.00001
GRCh38/hg38 5q13.3(chr5:74695284-74702264)x0
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT rs869320698
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000466.3(PEX1):c.1099del (p.Gln367fs) rs1403870448
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003560.4(PLA2G6):c.127C>T (p.Gln43Ter)
NM_003560.4(PLA2G6):c.1427+2T>C
NM_003560.4(PLA2G6):c.1A>G (p.Met1Val)
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) rs587784346
NM_003560.4(PLA2G6):c.319del (p.Leu107fs) rs776376695
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr) rs199935023
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs) rs80338924
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_025137.4(SPG11):c.5769del (p.Ser1923fs) rs312262770

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