ClinVar Miner

List of variants reported as likely pathogenic for motor peripheral neuropathy

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_021095.4(SLC5A6):c.1865_1866del (p.Gln622fs) rs774193816 0.00010
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys) rs746681765 0.00003
NM_001358263.1(HK1):c.19C>T (p.Arg7Ter) rs779250530 0.00001
NM_021625.5(TRPV4):c.1780C>T (p.Arg594Cys) rs868185064 0.00001
NM_021625.5(TRPV4):c.695G>A (p.Arg232His) rs769107613 0.00001
NM_021625.5(TRPV4):c.812G>A (p.Arg271His) rs387907219 0.00001
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val) rs751139506 0.00001
NM_138773.4(SLC25A46):c.779C>T (p.Pro260Leu) rs1580870705 0.00001
NC_000005.9:g.(?_110077728)_(110083984_?)dup
NM_000188.3(HK1):c.1252A>G (p.Lys418Glu) rs1564557037
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000188.3(HK1):c.271C>T (p.Arg91Ter)
NM_001330701.2(AGTPBP1):c.2186+2T>G rs1564069807
NM_001358263.1(HK1):c.1A>G (p.Met1Val) rs1589439508
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.4(MFN2):c.1839dup (p.Thr614fs) rs1553145402
NM_014874.4(MFN2):c.629A>G (p.Asp210Gly) rs1639043704
NM_014874.4(MFN2):c.720C>G (p.Phe240Leu) rs864622480
NM_021076.4(NEFH):c.883+1G>C rs1602961831
NM_021095.4(SLC5A6):c.1285A>G (p.Ser429Gly) rs2147992303
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del) rs515726154
NM_021625.5(TRPV4):c.1624T>C (p.Ser542Pro)
NM_021625.5(TRPV4):c.1625C>G (p.Ser542Cys) rs387906902
NM_021625.5(TRPV4):c.1771T>A (p.Tyr591Asn) rs1890124015
NM_021625.5(TRPV4):c.2012T>C (p.Leu671Pro)
NM_021625.5(TRPV4):c.2199G>A (p.Trp733Ter)
NM_021625.5(TRPV4):c.2386_2388del (p.Asn796del) rs1889549195
NM_021625.5(TRPV4):c.695G>C (p.Arg232Pro) rs769107613
NM_021625.5(TRPV4):c.710G>A (p.Arg237Gln) rs1289139464
NM_021625.5(TRPV4):c.710G>T (p.Arg237Leu) rs1289139464
NM_021625.5(TRPV4):c.805C>A (p.Arg269Ser) rs267607146
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.947G>T (p.Arg316Leu) rs387906905
NM_138773.4(SLC25A46):c.327-2A>C
NM_138773.4(SLC25A46):c.385-2A>T rs1799815535
NM_138773.4(SLC25A46):c.462+2T>C
NM_138773.4(SLC25A46):c.479G>A (p.Trp160Ter) rs1561602892
NM_138773.4(SLC25A46):c.620+1G>A
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln) rs1184021143
NM_152269.5(MTRFR):c.18_21del (p.Leu6fs) rs2138792385

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