List of variants in gene GDAP1 reported as pathogenic by GeneDx

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: 10

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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.715C>T (p.Leu239Phe)	rs104894080	0.00004
NM_018972.4(GDAP1):c.501del (p.Glu168fs)	rs886041386	0.00003
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.844C>T (p.Arg282Cys)	rs28937906	0.00001
NM_018972.4(GDAP1):c.173_174insA (p.Pro59fs)
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)	rs397515442
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln)	rs1323153568

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