List of variants in gene GTPBP3 reported as likely pathogenic by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_032620.4(GTPBP3):c.440C>T (p.Ala147Val)	rs774708853	0.00001
NM_032620.4(GTPBP3):c.1112T>C (p.Leu371Pro)	rs770871640
NM_032620.4(GTPBP3):c.517C>T (p.Arg173Trp)	rs1274363168

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