List of variants in gene GDAP1 reported as likely pathogenic for Charcot-Marie-Tooth disease type 4A

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)	rs104894080	0.00005
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)	rs936681187	0.00001
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter)	rs1554547986	0.00001
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln)	rs879254192	0.00001
NC_000008.10:g.(?_75272366)_(75272551_?)del
NM_018972.4(GDAP1):c.118-1G>A	rs2536724594
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)	rs2536725063
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	rs2536744805
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser)	rs1586804849
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg)	rs556827873
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln)	rs1323153568

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