List of variants in gene GDAP1 reported as pathogenic for Charcot-Marie-Tooth disease type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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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.581C>G (p.Ser194Ter)	rs104894075	0.00002
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)	rs104894078	0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)	rs745663149	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.140del (p.Lys47fs)	rs1808858148
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)	rs397515442
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly)	rs397515441
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)	rs104894079
NM_018972.4(GDAP1):c.558del (p.Ile186fs)	rs770658701
NM_018972.4(GDAP1):c.579+1G>A	rs864622501
NM_018972.4(GDAP1):c.652C>G (p.Gln218Glu)	rs121908113
NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser)	rs267606842
NM_018972.4(GDAP1):c.719G>A (p.Cys240Tyr)	rs121908115
NM_018972.4(GDAP1):c.821C>T (p.Pro274Leu)	rs397515443

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