ClinVar Miner

List of variants in gene MMUT reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.836A>G (p.Tyr279Cys) rs2228282 0.00058
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643 0.00050
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile) rs1183369398 0.00025
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) rs190834116 0.00019
NM_000255.4(MMUT):c.781A>G (p.Ile261Val) rs375054307 0.00019
NM_000255.4(MMUT):c.1332+3A>C rs367641890 0.00018
NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu) rs141829043 0.00018
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr) rs201536536 0.00015
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln) rs148285323 0.00013
NM_000255.4(MMUT):c.1421G>A (p.Arg474Gln) rs368746965 0.00010
NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala) rs759407117 0.00009
NM_000255.4(MMUT):c.1447T>C (p.Ser483Pro) rs772705749 0.00007
NM_000255.4(MMUT):c.1594C>T (p.Arg532Cys) rs764985110 0.00007
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys) rs541001298 0.00007
NM_000255.4(MMUT):c.754-18A>G rs746457518 0.00007
NM_000255.4(MMUT):c.912G>A (p.Arg304=) rs201311681 0.00006
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg) rs78150750 0.00005
NM_000255.4(MMUT):c.1607C>T (p.Ala536Val) rs369902876 0.00004
NM_000255.4(MMUT):c.2084C>T (p.Pro695Leu) rs561197473 0.00004
NM_000255.4(MMUT):c.598A>G (p.Ile200Val) rs772104231 0.00003
NM_000255.4(MMUT):c.1031C>G (p.Ser344Cys) rs762281578 0.00002
NM_000255.4(MMUT):c.1270C>T (p.Pro424Ser) rs373381232 0.00002
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys) rs760718889 0.00002
NM_000255.4(MMUT):c.1532G>A (p.Arg511Gln) rs776065390 0.00002
NM_000255.4(MMUT):c.161A>G (p.Lys54Arg) rs559152765 0.00002
NM_000255.4(MMUT):c.2123A>G (p.Gln708Arg) rs769217429 0.00002
NM_000255.4(MMUT):c.2124+4T>C rs370357524 0.00002
NM_000255.4(MMUT):c.227G>A (p.Arg76Lys) rs1252414363 0.00002
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser) rs563776413 0.00001
NM_000255.4(MMUT):c.1144A>G (p.Thr382Ala) rs1471923240 0.00001
NM_000255.4(MMUT):c.1261G>A (p.Val421Met) rs746763824 0.00001
NM_000255.4(MMUT):c.1400G>A (p.Arg467Gln) rs147737629 0.00001
NM_000255.4(MMUT):c.1733C>T (p.Ala578Val) rs759674071 0.00001
NM_000255.4(MMUT):c.1801A>G (p.Ile601Val) rs201888226 0.00001
NM_000255.4(MMUT):c.1828C>T (p.Arg610Cys) rs770978452 0.00001
NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala) rs569669261 0.00001
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu) rs575038087 0.00001
NM_000255.4(MMUT):c.1970T>C (p.Val657Ala) rs1767102899 0.00001
NM_000255.4(MMUT):c.2146G>A (p.Val716Ile) rs763572961 0.00001
NM_000255.4(MMUT):c.241T>A (p.Leu81Ile) rs150841850 0.00001
NM_000255.4(MMUT):c.295A>G (p.Met99Val) rs1467385866 0.00001
NM_000255.4(MMUT):c.359A>G (p.Asn120Ser) rs776108716 0.00001
NM_000255.4(MMUT):c.406G>A (p.Val136Ile) rs1767739165 0.00001
NM_000255.4(MMUT):c.499G>A (p.Val167Met) rs755709278 0.00001
NM_000255.4(MMUT):c.53A>G (p.Gln18Arg) rs372601759 0.00001
NM_000255.4(MMUT):c.562A>G (p.Met188Val) rs1468970345 0.00001
NM_000255.4(MMUT):c.656A>G (p.Asn219Ser) rs950211877 0.00001
NM_000255.4(MMUT):c.826G>C (p.Glu276Gln) rs766420051 0.00001
NC_000006.11:g.(?_49407899)_(49427199_?)dup
NM_000255.4(MMUT):c.1005A>T (p.Lys335Asn)
NM_000255.4(MMUT):c.1097A>G (p.Asn366Ser) rs864309737
NM_000255.4(MMUT):c.1114A>G (p.Ile372Val)
NM_000255.4(MMUT):c.1118A>G (p.Glu373Gly) rs2127417967
NM_000255.4(MMUT):c.1157A>C (p.His386Pro)
NM_000255.4(MMUT):c.1170T>G (p.Phe390Leu)
NM_000255.4(MMUT):c.1238A>G (p.Gln413Arg)
NM_000255.4(MMUT):c.1246T>G (p.Ser416Ala)
NM_000255.4(MMUT):c.1264G>A (p.Ala422Thr)
NM_000255.4(MMUT):c.1280_1281delinsTA (p.Gly427Val)
NM_000255.4(MMUT):c.1293G>A (p.Met431Ile) rs1767551077
NM_000255.4(MMUT):c.1330A>G (p.Lys444Glu)
NM_000255.4(MMUT):c.1415C>G (p.Ala472Gly) rs747589392
NM_000255.4(MMUT):c.1415C>T (p.Ala472Val) rs747589392
NM_000255.4(MMUT):c.1429G>A (p.Ala477Thr) rs1581828004
NM_000255.4(MMUT):c.1444+6A>G
NM_000255.4(MMUT):c.1459G>T (p.Val487Phe) rs1767446389
NM_000255.4(MMUT):c.1478A>T (p.Gln493Leu)
NM_000255.4(MMUT):c.1480T>A (p.Leu494Met)
NM_000255.4(MMUT):c.1499T>C (p.Val500Ala) rs766908649
NM_000255.4(MMUT):c.1501G>C (p.Glu501Gln) rs759605451
NM_000255.4(MMUT):c.150G>C (p.Gln50His)
NM_000255.4(MMUT):c.1560G>A (p.Lys520=) rs2127416791
NM_000255.4(MMUT):c.1565A>C (p.Lys522Thr)
NM_000255.4(MMUT):c.157_162del (p.Gly53_Lys54del)
NM_000255.4(MMUT):c.1615G>A (p.Glu539Lys)
NM_000255.4(MMUT):c.1670G>A (p.Arg557Gln) rs756389945
NM_000255.4(MMUT):c.1700A>G (p.Asp567Gly) rs1448500208
NM_000255.4(MMUT):c.1792A>G (p.Thr598Ala)
NM_000255.4(MMUT):c.179T>C (p.Ile60Thr) rs770382069
NM_000255.4(MMUT):c.1809-6T>A rs2127414761
NM_000255.4(MMUT):c.1814A>G (p.His605Arg)
NM_000255.4(MMUT):c.1847G>A (p.Arg616His) rs1369724342
NM_000255.4(MMUT):c.1891G>A (p.Ala631Thr)
NM_000255.4(MMUT):c.1892C>T (p.Ala631Val)
NM_000255.4(MMUT):c.1907C>T (p.Thr636Ile)
NM_000255.4(MMUT):c.1945C>T (p.Pro649Ser) rs1561952053
NM_000255.4(MMUT):c.1957-3T>C
NM_000255.4(MMUT):c.1993G>A (p.Asp665Asn) rs1767101872
NM_000255.4(MMUT):c.2015G>A (p.Ser672Asn)
NM_000255.4(MMUT):c.2047C>T (p.Pro683Ser) rs866763981
NM_000255.4(MMUT):c.2063A>G (p.Glu688Gly)
NM_000255.4(MMUT):c.2159A>G (p.Asn720Ser)
NM_000255.4(MMUT):c.2159A>T (p.Asn720Ile) rs1170712107
NM_000255.4(MMUT):c.215T>C (p.Leu72Ser)
NM_000255.4(MMUT):c.2162T>C (p.Val721Ala)
NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs) rs1766985866
NM_000255.4(MMUT):c.2201A>C (p.Gln734Pro) rs983998340
NM_000255.4(MMUT):c.2201A>G (p.Gln734Arg)
NM_000255.4(MMUT):c.2224T>G (p.Cys742Gly)
NM_000255.4(MMUT):c.2238G>C (p.Lys746Asn)
NM_000255.4(MMUT):c.262G>A (p.Val88Met)
NM_000255.4(MMUT):c.292A>C (p.Thr98Pro) rs754740382
NM_000255.4(MMUT):c.32T>C (p.Leu11Pro)
NM_000255.4(MMUT):c.393G>T (p.Gln131His)
NM_000255.4(MMUT):c.395A>T (p.Gln132Leu) rs766605891
NM_000255.4(MMUT):c.40C>T (p.His14Tyr) rs745369199
NM_000255.4(MMUT):c.430C>T (p.Arg144Cys)
NM_000255.4(MMUT):c.447C>A (p.Asp149Glu)
NM_000255.4(MMUT):c.452C>T (p.Pro151Leu)
NM_000255.4(MMUT):c.455G>T (p.Arg152Leu) rs758095905
NM_000255.4(MMUT):c.509C>G (p.Thr170Ser)
NM_000255.4(MMUT):c.509C>T (p.Thr170Ile)
NM_000255.4(MMUT):c.531T>G (p.Ile177Met)
NM_000255.4(MMUT):c.647C>A (p.Thr216Asn) rs1554160650
NM_000255.4(MMUT):c.670G>A (p.Glu224Lys) rs1554160638
NM_000255.4(MMUT):c.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer) rs1581834738
NM_000255.4(MMUT):c.700C>T (p.Pro234Ser) rs1442489589
NM_000255.4(MMUT):c.721A>G (p.Ile241Val)
NM_000255.4(MMUT):c.800A>G (p.Gln267Arg)
NM_000255.4(MMUT):c.805G>A (p.Ala269Thr) rs2127419445
NM_000255.4(MMUT):c.854T>C (p.Leu285Ser) rs1767680543
NM_000255.4(MMUT):c.911+5G>A
NM_000255.4(MMUT):c.911G>A (p.Arg304Lys) rs778221358
NM_000255.4(MMUT):c.958G>A (p.Ala320Thr)

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