ClinVar Miner

List of variants in gene MMUT reported by University Children's Hospital, University of Zurich

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Gene type:
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Total variants: 41
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HGVS dbSNP
NM_000255.4(MMUT):c.-39-1G>A rs879253822
NM_000255.4(MMUT):c.1084-1G>A rs879253838
NM_000255.4(MMUT):c.1084-2A>G rs879253839
NM_000255.4(MMUT):c.1164T>A (p.Asn388Lys) rs879253840
NM_000255.4(MMUT):c.1181dup (p.Leu394fs) rs879253841
NM_000255.4(MMUT):c.1271C>T (p.Pro424Leu) rs879253842
NM_000255.4(MMUT):c.1277G>A (p.Gly426Glu) rs533755473
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter) rs879253825
NM_000255.4(MMUT):c.1333-20_1333-9del rs879253843
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter) rs879253844
NM_000255.4(MMUT):c.1655C>T (p.Ala552Val) rs879253845
NM_000255.4(MMUT):c.1677_1747dup (p.Val583Aspfs) rs1554158970
NM_000255.4(MMUT):c.1853T>C (p.Leu618Pro) rs879253846
NM_000255.4(MMUT):c.1874A>G (p.Asp625Gly) rs879253847
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter) rs879253848
NM_000255.4(MMUT):c.2078del (p.Gly693fs) rs879253849
NM_000255.4(MMUT):c.2193_2196dup (p.Val733fs) rs879253850
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) rs879253851
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) rs879253852
NM_000255.4(MMUT):c.2T>C (p.Met1Thr) rs879253820
NM_000255.4(MMUT):c.30dup (p.Leu11fs) rs879253821
NM_000255.4(MMUT):c.330T>G (p.Tyr110Ter) rs879253826
NM_000255.4(MMUT):c.378C>A (p.Asn126Lys) rs879253827
NM_000255.4(MMUT):c.397G>A (p.Gly133Arg) rs879253828
NM_000255.4(MMUT):c.415G>A (p.Asp139Asn) rs879253829
NM_000255.4(MMUT):c.467A>T (p.Asp156Val) rs757000253
NM_000255.4(MMUT):c.55dup (p.Val19fs) rs879253823
NM_000255.4(MMUT):c.560C>G (p.Thr187Ser) rs879253830
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile) rs200908035
NM_000255.4(MMUT):c.610_612GAA[1] (p.Glu205del) rs879253831
NM_000255.4(MMUT):c.630del (p.Glu211fs) rs879253832
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg) rs879253833
NM_000255.4(MMUT):c.692dup (p.Tyr231Ter) rs747777227
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter) rs879253834
NM_000255.4(MMUT):c.828G>C (p.Glu276Asp) rs12175488
NM_000255.4(MMUT):c.850G>A (p.Gly284Arg) rs761477436
NM_000255.4(MMUT):c.851G>A (p.Gly284Glu) rs879253835
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter) rs879253824
NM_000255.4(MMUT):c.927G>A (p.Trp309Ter) rs879253836
NM_000255.4(MMUT):c.974G>A (p.Gly325Asp) rs879253837
NM_000255.4(MMUT):c.977G>A (p.Arg326Lys) rs758577372

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