ClinVar Miner

List of variants in gene GDAP1 reported as pathogenic for Charcot-Marie-Tooth disease recessive intermediate a

Included ClinVar conditions (5):
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
GDAP1, IVS4DS, G-A, +1
NC_000008.9:g.(75248716_75262617)_(75559358_75586021)del
NM_001362931.2(GDAP1):c.694+932_694+1314del
NM_018972.2(GDAP1):c.[347T>C];[62delA]
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_018972.4(GDAP1):c.116del (p.Lys39fs) rs778547659
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) rs1586803063
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.501_502AG[1] (p.Glu168fs) rs1221804567
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579del (p.Lys193fs) rs1060500979
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter) rs1554548334
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter)
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter) rs121908112
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432

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