ClinVar Miner

List of variants in gene MMUT reported as pathogenic by Invitae

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Gene type:
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Total variants: 33
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HGVS dbSNP
NC_000006.11:g.(?_49423783)_(49423960_?)del
NM_000255.3(MMUT):c.322C>T rs121918257
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter) rs770466993
NM_000255.4(MMUT):c.1084-10A>G rs777031588
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) rs772552898
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299
NM_000255.4(MMUT):c.1194_1195TG[1] (p.Val399fs) rs1227030642
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter) rs887126161
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) rs764173488
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156
NM_000255.4(MMUT):c.1560+1G>T rs200019422
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter) rs1554161054
NM_000255.4(MMUT):c.1677-1G>A rs754369323
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) rs372486357
NM_000255.4(MMUT):c.1885dup (p.Arg629fs) rs1561952122
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
NM_000255.4(MMUT):c.2125-3C>G
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251
NM_000255.4(MMUT):c.281G>T (p.Gly94Val)
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778
NM_000255.4(MMUT):c.394C>T (p.Gln132Ter) rs1554160743
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) rs780068818
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399
NM_000255.4(MMUT):c.622del (p.Val208fs)
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.671_678dup (p.Val227fs) rs758008398
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter) rs200596762
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys)

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