ClinVar Miner

List of variants in gene GNB4 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NC_000003.11:g.(?_179118981)_(179144008_?)dup
NC_000003.12:g.(?_179401203)_(179426210_?)dup
NM_021629.4(GNB4):c.107A>T (p.Asn36Ile) rs1577031106
NM_021629.4(GNB4):c.136C>T (p.Arg46Ter)
NM_021629.4(GNB4):c.137G>A (p.Arg46Gln)
NM_021629.4(GNB4):c.16C>G (p.Gln6Glu) rs1163990709
NM_021629.4(GNB4):c.196G>A (p.Asp66Asn) rs864622729
NM_021629.4(GNB4):c.204-2A>G
NM_021629.4(GNB4):c.204-6C>G
NM_021629.4(GNB4):c.227A>G (p.Asp76Gly)
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_021629.4(GNB4):c.334G>A (p.Val112Ile)
NM_021629.4(GNB4):c.429A>G (p.Thr143=) rs1577029046
NM_021629.4(GNB4):c.442T>A (p.Cys148Ser)
NM_021629.4(GNB4):c.44G>A (p.Arg15Gln) rs138187021
NM_021629.4(GNB4):c.491C>A (p.Thr164Lys)
NM_021629.4(GNB4):c.574T>G (p.Leu192Val) rs556759178
NM_021629.4(GNB4):c.592A>T (p.Thr198Ser)
NM_021629.4(GNB4):c.596T>A (p.Phe199Tyr) rs760894139
NM_021629.4(GNB4):c.598G>A (p.Val200Ile) rs775578986
NM_021629.4(GNB4):c.630A>T (p.Leu210Phe)
NM_021629.4(GNB4):c.640C>T (p.Arg214Ter)
NM_021629.4(GNB4):c.645T>G (p.Asp215Glu)
NM_021629.4(GNB4):c.700-3T>C rs199620294
NM_021629.4(GNB4):c.709A>C (p.Asn237His)
NM_021629.4(GNB4):c.714A>G (p.Gly238=) rs1433615086
NM_021629.4(GNB4):c.733T>A (p.Ser245Thr)
NM_021629.4(GNB4):c.759T>G (p.Phe253Leu) rs368061934
NM_021629.4(GNB4):c.766C>T (p.Arg256Cys)
NM_021629.4(GNB4):c.783_785ATT[1] (p.Leu263del) rs771274313
NM_021629.4(GNB4):c.799G>A (p.Asp267Asn) rs752762550
NM_021629.4(GNB4):c.7G>A (p.Glu3Lys)
NM_021629.4(GNB4):c.826G>A (p.Val276Ile)
NM_021629.4(GNB4):c.848G>C (p.Arg283Pro) rs186593898
NM_021629.4(GNB4):c.853T>G (p.Leu285Val) rs554623238
NM_021629.4(GNB4):c.86C>T (p.Thr29Met) rs762114369
NM_021629.4(GNB4):c.896C>T (p.Thr299Met)
NM_021629.4(GNB4):c.903A>T (p.Lys301Asn) rs1167931862
NM_021629.4(GNB4):c.908A>C (p.Asp303Ala) rs1020090528
NM_021629.4(GNB4):c.910C>T (p.Arg304Cys) rs201776673
NM_021629.4(GNB4):c.911G>A (p.Arg304His) rs771664047
NM_021629.4(GNB4):c.923T>C (p.Leu308Pro) rs1168008697
NM_021629.4(GNB4):c.927T>A (p.Ala309=)
NM_021629.4(GNB4):c.939_940del (p.Asn313fs) rs1560208074
NM_021629.4(GNB4):c.95A>G (p.Gln32Arg)

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