ClinVar Miner

List of variants studied for peripheral neuropathy by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (517):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_003560.4(PLA2G6):c.2152G>A (p.Ala718Thr) rs371872005 0.00006
NM_000287.4(PEX6):c.2663G>A (p.Arg888His) rs267608247 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_018319.4(TDP1):c.1478A>G (p.His493Arg) rs119467003 0.00002
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239 0.00001
NC_012920.1(MT-ND5):m.12923G>A
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter) rs80338645
NM_000081.4(LYST):c.2413del (p.Glu805fs) rs80338647
NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn) rs886043987
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.882+1G>A rs267608207
NM_000466.3(PEX1):c.1108dup (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388

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