ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (138):
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ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000166.6(GJB1):c.783_784del (p.Ile262fs) rs1602349955
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596
NM_000530.8(MPZ):c.558del (p.Arg186fs) rs1553259568
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_002437.5(MPV17):c.376-9T>G rs368900406
NM_002972.4(SBF1):c.3826+1G>A rs1009209509
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.3(MFN2):c.1839dup (p.Thr614fs) rs1553145402
NM_014874.3(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) rs1586803063
NM_021625.4(TRPV4):c.935C>T (p.Ala312Val) rs751139506
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_022489.4(INF2):c.226CTG[2] (p.Leu78del)
NM_024577.3(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile)
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala) rs1599705281

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