ClinVar Miner

List of variants reported as likely pathogenic for demyelinating hereditary motor and sensory neuropathy

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP
GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4
NC_000011.9:g.(?_9801955)_(10064538_?)del
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) rs863225027
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr)
NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs) rs1569512576
NM_006096.3(NDRG1):c.326+1G>A
NM_006158.4(NEFL):c.837G>A (p.Trp279Ter)
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.498-2A>G rs1554300952
NM_016156.5(MTMR2):c.804+1G>C rs1565351898
NM_016156.5(MTMR2):c.804+2T>G rs1555061026
NM_016156.5(MTMR2):c.993+1G>A rs1555060614
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.311-1790_408del
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810
NM_020956.2(PRX):c.*2494del rs797045102
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.3(SH3TC2):c.2431C>T
NM_024577.3(SH3TC2):c.2640del (p.Asn881fs) rs1561764569
NM_024577.3(SH3TC2):c.279+1G>A rs1198337036
NM_024577.3(SH3TC2):c.280-2A>G rs1561770798
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.3054-2A>C
NM_024577.3(SH3TC2):c.3328-1G>T rs1554120331
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.385+2T>C rs773554464
NM_024577.3(SH3TC2):c.529+1G>A
NM_024577.3(SH3TC2):c.806-1G>A rs1554122560
NM_030962.3(SBF2):c.1297-2A>G
NM_030962.3(SBF2):c.1929+15398_2137del
NM_030962.3(SBF2):c.5037+1G>A rs1060499999
NM_033500.2(HK1):c.1334C>T (p.Thr445Met) rs1057517928
Single allele

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