List of variants in gene MTM1 reported as pathogenic by Revvity Omics, Revvity

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)	rs587783771	0.00001
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter)	rs587783792
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter)	rs2148511944
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter)	rs587783805
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter)	rs587783854
NM_000252.3(MTM1):c.949dup (p.Met317fs)	rs797045722

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