List of variants in gene GDAP1 reported as uncertain significance 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: 18

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HGVS	dbSNP	gnomAD frequency
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)	rs148508128	0.00040
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile)	rs139808557	0.00016
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val)	rs112786851	0.00007
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala)	rs371138642	0.00004
NM_018972.4(GDAP1):c.782T>C (p.Leu261Pro)	rs745398081	0.00002
NM_018972.4(GDAP1):c.209G>T (p.Arg70Leu)	rs775739690	0.00001
NM_018972.4(GDAP1):c.577A>C (p.Lys193Gln)	rs1085307665	0.00001
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser)	rs878855054	0.00001
NM_018972.4(GDAP1):c.695-9T>A	rs906225606	0.00001
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys)	rs879254005
NM_018972.4(GDAP1):c.378G>C (p.Glu126Asp)
NM_018972.4(GDAP1):c.506_507delinsTG (p.Ser169Leu)	rs1809384050
NM_018972.4(GDAP1):c.536C>A (p.Pro179Gln)	rs1131691282
NM_018972.4(GDAP1):c.586C>G (p.Leu196Val)	rs1057524488
NM_018972.4(GDAP1):c.653A>C (p.Gln218Pro)	rs556827873
NM_018972.4(GDAP1):c.880G>A (p.Gly294Arg)	rs976792279
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp)	rs1416176817
NM_018972.4(GDAP1):c.985C>T (p.Leu329Phe)	rs879254196

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