ClinVar Miner

List of variants in gene MMUT reported as uncertain significance for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NC_000006.11:g.(?_49407899)_(49427199_?)dup
NM_000255.4(MMUT):c.-35G>T rs483352795
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643
NM_000255.4(MMUT):c.1156C>A (p.His386Asn) rs1554159937
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln) rs774457503
NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr) rs576536579
NM_000255.4(MMUT):c.1324G>C (p.Ala442Pro) rs1554159871
NM_000255.4(MMUT):c.1332+3A>C rs367641890
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys)
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510
NM_000255.4(MMUT):c.1421G>A (p.Arg474Gln)
NM_000255.4(MMUT):c.1429G>A (p.Ala477Thr)
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp) rs886061559
NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr) rs1238333040
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln)
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg) rs1554158951
NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg) rs1554158777
NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg) rs1554158775
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr)
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu) rs575038087
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217
NM_000255.4(MMUT):c.2125-2A>G rs1561948924
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile) rs1183369398
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919
NM_000255.4(MMUT):c.260G>A (p.Gly87Glu) rs1554160986
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys) rs746274670
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) rs190834116
NM_000255.4(MMUT):c.292A>C (p.Thr98Pro)
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu) rs1057518979
NM_000255.4(MMUT):c.395A>T (p.Gln132Leu)
NM_000255.4(MMUT):c.41A>T (p.His14Leu) rs886061561
NM_000255.4(MMUT):c.421G>A (p.Ala141Thr) rs1554160730
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800
NM_000255.4(MMUT):c.647C>A (p.Thr216Asn) rs1554160650
NM_000255.4(MMUT):c.656A>G (p.Asn219Ser)
NM_000255.4(MMUT):c.669_674dup (p.Phe225_Met226insLeuGlu) rs1554160637
NM_000255.4(MMUT):c.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer)
NM_000255.4(MMUT):c.836A>G (p.Tyr279Cys) rs2228282
NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del) rs1561957516
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe) rs1085307929

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.