ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A by Fulgent Genetics, Fulgent Genetics

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557 0.00017
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114 0.00015
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185 0.00005
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_018972.4(GDAP1):c.501del (p.Glu168fs) rs886041386 0.00003
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser) rs533081002 0.00003
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075 0.00002
NM_018972.4(GDAP1):c.191A>G (p.Asn64Ser) rs769632836 0.00001
NM_018972.4(GDAP1):c.311-1G>A rs1370011538 0.00001
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 0.00001
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429 0.00001
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906 0.00001
NM_018972.4(GDAP1):c.15_16delinsAT (p.Glu6Ter)
NM_018972.4(GDAP1):c.1A>G (p.Met1Val)
NM_018972.4(GDAP1):c.400del (p.Asp134fs)
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.77T>G (p.Leu26Arg)
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln) rs879254192
NM_018972.4(GDAP1):c.966dup (p.Thr323fs)
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432

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