ClinVar Miner

List of variants in gene MMUT reported as likely pathogenic for not provided

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys) rs746274670 0.00006
NM_000255.4(MMUT):c.1286A>G (p.Tyr429Cys) rs201741770 0.00005
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066 0.00003
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro) rs368790885 0.00001
NM_000255.4(MMUT):c.1130C>A (p.Ala377Glu) rs121918250 0.00001
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg) rs769922244 0.00001
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919 0.00001
NM_000255.4(MMUT):c.295A>G (p.Met99Val) rs1467385866 0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys) rs121918257 0.00001
NM_000255.4(MMUT):c.571G>A (p.Ala191Thr) rs1313120333 0.00001
NM_000255.4(MMUT):c.1083+1G>A rs1554160198
NM_000255.4(MMUT):c.1083+1G>T
NM_000255.4(MMUT):c.1108A>G (p.Thr370Ala)
NM_000255.4(MMUT):c.1160C>A (p.Thr387Lys)
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del) rs1767553642
NM_000255.4(MMUT):c.1279G>A (p.Gly427Ser)
NM_000255.4(MMUT):c.1296A>C (p.Glu432Asp)
NM_000255.4(MMUT):c.1324G>C (p.Ala442Pro) rs1554159871
NM_000255.4(MMUT):c.1332+1G>C
NM_000255.4(MMUT):c.1333-8_1333-3del
NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro) rs368746965
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro) rs864309738
NM_000255.4(MMUT):c.1664C>T (p.Ala555Val)
NM_000255.4(MMUT):c.1675A>G (p.Arg559Gly)
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.4(MMUT):c.1760A>C (p.Tyr587Ser) rs1767285693
NM_000255.4(MMUT):c.1792_1808+6del rs2127415155
NM_000255.4(MMUT):c.1809-1G>C
NM_000255.4(MMUT):c.1809-2A>T rs1767243474
NM_000255.4(MMUT):c.1870C>A (p.Gln624Lys)
NM_000255.4(MMUT):c.1873G>A (p.Asp625Asn)
NM_000255.4(MMUT):c.1875T>A (p.Asp625Glu)
NM_000255.4(MMUT):c.1897G>C (p.Val633Leu)
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser)
NM_000255.4(MMUT):c.1943G>C (p.Gly648Ala)
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1957-899A>G rs1767133183
NM_000255.4(MMUT):c.2008G>C (p.Gly670Arg)
NM_000255.4(MMUT):c.2020C>G (p.Leu674Val) rs1164271240
NM_000255.4(MMUT):c.2020C>T (p.Leu674Phe) rs1164271240
NM_000255.4(MMUT):c.2081G>A (p.Arg694Gln)
NM_000255.4(MMUT):c.2150G>A (p.Gly717Asp)
NM_000255.4(MMUT):c.2167G>A (p.Gly723Ser)
NM_000255.4(MMUT):c.2168G>A (p.Gly723Asp)
NM_000255.4(MMUT):c.256C>A (p.Pro86Thr)
NM_000255.4(MMUT):c.257C>G (p.Pro86Arg)
NM_000255.4(MMUT):c.296T>C (p.Met99Thr) rs1767770379
NM_000255.4(MMUT):c.322C>G (p.Arg108Gly) rs121918257
NM_000255.4(MMUT):c.323G>T (p.Arg108Leu)
NM_000255.4(MMUT):c.360T>G (p.Asn120Lys)
NM_000255.4(MMUT):c.372_374dup (p.Lys124_Asp125insGlu) rs796052009
NM_000255.4(MMUT):c.410C>G (p.Ala137Gly) rs941483851
NM_000255.4(MMUT):c.422C>A (p.Ala141Glu) rs565348836
NM_000255.4(MMUT):c.446A>G (p.Asp149Gly)
NM_000255.4(MMUT):c.457G>A (p.Val153Ile)
NM_000255.4(MMUT):c.466G>A (p.Asp156Asn)
NM_000255.4(MMUT):c.567T>G (p.Asn189Lys) rs1561959114
NM_000255.4(MMUT):c.571G>T (p.Ala191Ser)
NM_000255.4(MMUT):c.590C>A (p.Ala197Glu)
NM_000255.4(MMUT):c.61G>T (p.Glu21Ter) rs1767780776
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.688A>G (p.Thr230Ala)
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg) rs879253833
NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn) rs864309736
NM_000255.4(MMUT):c.793C>T (p.His265Tyr)
NM_000255.4(MMUT):c.862T>C (p.Ser288Pro) rs1179778233
NM_000255.4(MMUT):c.912-1G>A rs1561957527
NM_000255.4(MMUT):c.917C>A (p.Ser306Tyr) rs1085307929
NM_000255.4(MMUT):c.925T>G (p.Trp309Gly) rs2127418704
NM_000255.4(MMUT):c.927G>C (p.Trp309Cys)
NM_000255.4(MMUT):c.970G>T (p.Ala324Ser)
NM_000255.4(MMUT):c.976A>G (p.Arg326Gly) rs1085308002

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