ClinVar Miner

List of variants in gene GDAP1 reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 0.00001
NC_000008.10:g.(?_75272366)_(75272551_?)del
NM_018972.4(GDAP1):c.118-1G>A
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.196C>T (p.Pro66Ser) rs773136934
NM_018972.4(GDAP1):c.246_256del (p.Gly83fs)
NM_018972.4(GDAP1):c.311-1790_408del
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu) rs1174933176
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe) rs1586803187
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.760dup (p.Thr254fs)
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln) rs879254192
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432

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