List of variants in gene MTM1 reported as pathogenic by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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: 12

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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.1053+1G>A	rs587783751
NM_000252.3(MTM1):c.1089dup (p.Val364fs)	rs587783752
NM_000252.3(MTM1):c.1261-10A>G	rs397518445
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter)	rs782234944
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)	rs132630304
NM_000252.3(MTM1):c.342_342+4del	rs797045717
NM_000252.3(MTM1):c.593A>C (p.Tyr198Ser)	rs1569565497
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter)	rs587783847
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr)	rs587783848
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter)	rs587783854
NM_000252.3(MTM1):c.969dup (p.Val324fs)	rs587783865

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