List of variants in gene MMUT reported as pathogenic by University Children's Hospital, University of Zurich

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: 41

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.330T>G (p.Tyr110Ter)	rs879253826	0.00003
NM_000255.4(MMUT):c.1084-2A>G	rs879253839	0.00001
NM_000255.4(MMUT):c.-39-1G>A	rs879253822
NM_000255.4(MMUT):c.1084-1G>A	rs879253838
NM_000255.4(MMUT):c.1164T>A (p.Asn388Lys)	rs879253840
NM_000255.4(MMUT):c.1181dup (p.Leu394fs)	rs879253841
NM_000255.4(MMUT):c.1271C>T (p.Pro424Leu)	rs879253842
NM_000255.4(MMUT):c.1277G>A (p.Gly426Glu)	rs533755473
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter)	rs879253825
NM_000255.4(MMUT):c.1333-20_1333-9del	rs879253843
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)	rs879253844
NM_000255.4(MMUT):c.1655C>T (p.Ala552Val)	rs879253845
NM_000255.4(MMUT):c.1677_1747dup (p.Val583Aspfs)
NM_000255.4(MMUT):c.1853T>C (p.Leu618Pro)	rs879253846
NM_000255.4(MMUT):c.1874A>G (p.Asp625Gly)	rs879253847
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter)	rs879253848
NM_000255.4(MMUT):c.2078del (p.Gly693fs)	rs879253849
NM_000255.4(MMUT):c.2193_2196dup (p.Val733fs)	rs879253850
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)	rs879253851
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)	rs879253852
NM_000255.4(MMUT):c.2T>C (p.Met1Thr)	rs879253820
NM_000255.4(MMUT):c.30dup (p.Leu11fs)	rs879253821
NM_000255.4(MMUT):c.378C>A (p.Asn126Lys)	rs879253827
NM_000255.4(MMUT):c.397G>A (p.Gly133Arg)	rs879253828
NM_000255.4(MMUT):c.415G>A (p.Asp139Asn)	rs879253829
NM_000255.4(MMUT):c.467A>T (p.Asp156Val)	rs757000253
NM_000255.4(MMUT):c.55dup (p.Val19fs)	rs879253823
NM_000255.4(MMUT):c.560C>G (p.Thr187Ser)	rs879253830
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile)	rs200908035
NM_000255.4(MMUT):c.610GAA[1] (p.Glu205del)	rs879253831
NM_000255.4(MMUT):c.630del (p.Glu211fs)	rs879253832
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg)	rs879253833
NM_000255.4(MMUT):c.692dup (p.Tyr231Ter)	rs747777227
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)	rs879253834
NM_000255.4(MMUT):c.828G>C (p.Glu276Asp)	rs12175488
NM_000255.4(MMUT):c.850G>A (p.Gly284Arg)	rs761477436
NM_000255.4(MMUT):c.851G>A (p.Gly284Glu)	rs879253835
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter)	rs879253824
NM_000255.4(MMUT):c.927G>A (p.Trp309Ter)	rs879253836
NM_000255.4(MMUT):c.974G>A (p.Gly325Asp)	rs879253837
NM_000255.4(MMUT):c.977G>A (p.Arg326Lys)	rs758577372

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