ClinVar Miner

List of variants in gene GDAP1 reported as likely pathogenic

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Total variants: 47
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HGVS dbSNP gnomAD frequency
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.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226 0.00004
NM_018972.4(GDAP1):c.311-1G>A rs1370011538 0.00001
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 0.00001
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034 0.00001
NC_000008.10:g.(?_75272366)_(75272551_?)del
NM_018972.4(GDAP1):c.118-1G>A
NM_018972.4(GDAP1):c.157G>T (p.Glu53Ter) rs746609932
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg) rs863224774
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys) rs1808862287
NM_018972.4(GDAP1):c.194A>G (p.Glu65Gly) rs2131496131
NM_018972.4(GDAP1):c.196C>T (p.Pro66Ser) rs773136934
NM_018972.4(GDAP1):c.246_256del (p.Gly83fs)
NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer) rs1808869772
NM_018972.4(GDAP1):c.287A>G (p.Tyr96Cys) rs1586795440
NM_018972.4(GDAP1):c.308A>T (p.Asp103Val) rs1064793135
NM_018972.4(GDAP1):c.311-1790_408del
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu) rs1174933176
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.372C>G (p.Tyr124Ter) rs786205590
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe) rs1586803187
NM_018972.4(GDAP1):c.431C>T (p.Pro144Leu) rs786205591
NM_018972.4(GDAP1):c.445G>C (p.Asp149His) rs1443963090
NM_018972.4(GDAP1):c.457C>T (p.Pro153Ser) rs2131512957
NM_018972.4(GDAP1):c.466G>T (p.Ala156Ser) rs1809302381
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.485-2del
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser) rs1586804849
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg) rs556827873
NM_018972.4(GDAP1):c.674GAA[1] (p.Arg226del) rs1586806238
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.716T>C (p.Leu239Pro)
NM_018972.4(GDAP1):c.720C>A (p.Cys240Ter)
NM_018972.4(GDAP1):c.737T>G (p.Leu246Arg)
NM_018972.4(GDAP1):c.760dup (p.Thr254fs)
NM_018972.4(GDAP1):c.774del (p.Lys259fs) rs2131521557
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.802_803del (p.Trp268fs) rs765346218
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) rs150989205
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln) rs879254192
NM_018972.4(GDAP1):c.825del (p.Leu276fs) rs2131521760
NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu) rs1586807529
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432

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