List of variants in gene MMUT reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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_000255.4(MMUT):c.2026G>A (p.Ala676Thr)	rs147715336	0.00011
NM_000255.4(MMUT):c.1106G>A (p.Arg369His)	rs564069299	0.00006
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)	rs727504020	0.00005
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys)	rs772552898	0.00004
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)	rs1238694184	0.00002
NM_000255.4(MMUT):c.109C>T (p.Gln37Ter)	rs1487859107	0.00001
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)	rs779990936	0.00001
NM_000255.4(MMUT):c.281G>T (p.Gly94Val)	rs535411418	0.00001
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)	rs778702777	0.00001
NM_000255.4(MMUT):c.654A>C (p.Gln218His)	rs1446389693	0.00001
NM_000255.4(MMUT):c.1230_1235del (p.Ile411_Ile412del)	rs1767553642
NM_000255.4(MMUT):c.1444+1del	rs1189219556
NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr)	rs1302409621
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)	rs879253851

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