ClinVar Miner

List of variants studied for peripheral neuropathy by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (524):
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ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016 0.00003
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_020247.5(COQ8A):c.588+1G>C rs1474965033 0.00001
NM_024577.4(SH3TC2):c.224G>A (p.Arg75Gln) rs749772988 0.00001
NM_024577.4(SH3TC2):c.2577T>A (p.Tyr859Ter) rs758871406 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile) rs104894355
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs) rs606231185
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_003104.6(SORD):c.553G>A (p.Gly185Arg)
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_006158.5(NEFL):c.262A>C (p.Thr88Pro) rs2117255599
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs) rs1222150652
NM_033305.3(VPS13A):c.1A>T (p.Met1Leu) rs2131029946
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg) rs2062427908

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