List of variants in gene MMUT reported as pathogenic by Counsyl

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: 38

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)	rs121918252	0.00021
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.572C>A (p.Ala191Glu)	rs760782399	0.00004
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)	rs761477436	0.00004
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)	rs774159791	0.00003
NM_000255.4(MMUT):c.1677-1G>A	rs754369323	0.00003
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)	rs121918256	0.00003
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter)	rs200596762	0.00003
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)	rs398123278	0.00003
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)	rs761525156	0.00002
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)	rs1238694184	0.00002
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)	rs753288303	0.00001
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter)	rs1346775255	0.00001
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)	rs887126161	0.00001
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)	rs764173488	0.00001
NM_000255.4(MMUT):c.1560+1G>T	rs200019422	0.00001
NM_000255.4(MMUT):c.1957-2A>G	rs1554158379	0.00001
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)	rs777758903	0.00001
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)	rs779990936	0.00001
NM_000255.4(MMUT):c.323G>A (p.Arg108His)	rs483352778	0.00001
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)	rs780068818	0.00001
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)	rs778702777	0.00001
NM_000255.4(MMUT):c.1022dup (p.Asn341fs)	rs752898811
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter)	rs770466993
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter)	rs879253825
NM_000255.4(MMUT):c.1332+1del	rs771542321
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter)	rs1554161054
NM_000255.4(MMUT):c.1677-1G>C	rs754369323
NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer)	rs1554158377
NM_000255.4(MMUT):c.29dup (p.Leu10fs)	rs1437477079
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter)	rs121918253
NM_000255.4(MMUT):c.360dup (p.Lys121Ter)	rs1554160919
NM_000255.4(MMUT):c.671_678dup (p.Val227fs)	rs758008398
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)	rs879253834
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)	rs780283588
NM_000255.4(MMUT):c.753+2T>A	rs796052006

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