ClinVar Miner

List of variants studied for demyelinating hereditary motor and sensory neuropathy by Athena Diagnostics Inc

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) rs863225027
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) rs863225028
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) rs863225025
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) rs61735578
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) rs566204
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.1141C>T (p.Arg381Ter) rs377357931
NM_014845.5(FIG4):c.1948+3A>G rs10499054
NM_014845.5(FIG4):c.67-7T>C rs56378532
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) rs61735577
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) rs3824874
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166
NM_020956.2(PRX):c.*1421G>A rs117336941
NM_020956.2(PRX):c.*1688G>C rs146789340
NM_020956.2(PRX):c.*2860T>C rs268672
NM_020956.2(PRX):c.*2968A>G rs268673
NM_020956.2(PRX):c.*3453C>G rs3745202
NM_020956.2(PRX):c.*4264_*4266GGA[6] rs139624657
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714

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