List of variants in gene MTM1 reported as pathogenic by Eurofins NTD LLC (GA)

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: 14

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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.1040T>G (p.Leu347Ter)	rs398123264
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs)	rs587783752
NM_000252.3(MTM1):c.1306_1310dup (p.Phe438fs)	rs398123267
NM_000252.3(MTM1):c.1357_1358del (p.Pro453fs)	rs398123268
NM_000252.3(MTM1):c.1415_1416del (p.Ser472fs)	rs797044503
NM_000252.3(MTM1):c.142_143del (p.Glu48fs)	rs398123270
NM_000252.3(MTM1):c.1644+1G>T	rs398123272
NM_000252.3(MTM1):c.1644+3_1644+6del	rs797044504
NM_000252.3(MTM1):c.19del (p.Ser7fs)	rs886044770
NM_000252.3(MTM1):c.444+1G>A	rs886044840
NM_000252.3(MTM1):c.595_599del (p.Pro199fs)	rs398123273
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter)	rs398123275
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)	rs132630305

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