ClinVar Miner

List of variants in gene MMUT reported as pathogenic by Counsyl

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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_000255.3(MMUT):c.1022dup (p.Asn341Lysfs) rs752898811
NM_000255.3(MMUT):c.1025C>A (p.Ser342Ter) rs770466993
NM_000255.3(MMUT):c.1105C>T (p.Arg369Cys) rs772552898
NM_000255.3(MMUT):c.1106G>A (p.Arg369His) rs564069299
NM_000255.3(MMUT):c.1207C>T (p.Arg403Ter) rs727504020
NM_000255.3(MMUT):c.1280G>A (p.Gly427Asp) rs753288303
NM_000255.3(MMUT):c.1287C>G (p.Tyr429Ter) rs1346775255
NM_000255.3(MMUT):c.129G>A (p.Trp43Ter) rs879253825
NM_000255.3(MMUT):c.1332+1delG rs771542321
NM_000255.3(MMUT):c.1399C>T (p.Arg467Ter) rs774159791
NM_000255.3(MMUT):c.1420C>T (p.Arg474Ter) rs887126161
NM_000255.3(MMUT):c.1481T>A (p.Leu494Ter) rs764173488
NM_000255.3(MMUT):c.1531C>T (p.Arg511Ter) rs761525156
NM_000255.3(MMUT):c.1560+1G>T rs200019422
NM_000255.3(MMUT):c.160A>T (p.Lys54Ter) rs1554161054
NM_000255.3(MMUT):c.1677-1G>A rs754369323
NM_000255.3(MMUT):c.1677-1G>C rs754369323
NM_000255.3(MMUT):c.1741C>T (p.Arg581Ter) rs1238694184
NM_000255.3(MMUT):c.1957-2A>G rs1554158379
NM_000255.3(MMUT):c.1962_1963delTC (p.Arg655Terfs) rs1554158377
NM_000255.3(MMUT):c.2080C>T (p.Arg694Trp) rs777758903
NM_000255.3(MMUT):c.2150G>T (p.Gly717Val) rs121918252
NM_000255.3(MMUT):c.2179C>T (p.Arg727Ter) rs779990936
NM_000255.3(MMUT):c.29dup (p.Leu10Phefs) rs1437477079
NM_000255.3(MMUT):c.323G>A (p.Arg108His) rs483352778
NM_000255.3(MMUT):c.349G>T (p.Glu117Ter) rs121918253
NM_000255.3(MMUT):c.360dup (p.Lys121Terfs) rs1554160919
NM_000255.3(MMUT):c.454C>T (p.Arg152Ter) rs780068818
NM_000255.3(MMUT):c.572C>A (p.Ala191Glu) rs760782399
NM_000255.3(MMUT):c.607G>A (p.Gly203Arg) rs778702777
NM_000255.3(MMUT):c.655A>T (p.Asn219Tyr) rs121918256
NM_000255.3(MMUT):c.671_678dup (p.Val227Asnfs) rs758008398
NM_000255.3(MMUT):c.682C>T (p.Arg228Ter) rs200596762
NM_000255.3(MMUT):c.693C>G (p.Tyr231Ter) rs879253834
NM_000255.3(MMUT):c.729_730insTT (p.Asp244Leufs) rs780283588
NM_000255.3(MMUT):c.753+2T>A rs796052006
NM_000255.3(MMUT):c.850G>T (p.Gly284Ter) rs761477436
NM_000255.3(MMUT):c.91C>T (p.Arg31Ter) rs398123278

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