ClinVar Miner

List of variants in gene MMAB reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_052845.4(MMAB):c.*3019A>G rs78065254 0.00564
NM_052845.4(MMAB):c.*3295C>T rs144430513 0.00304
NM_052845.4(MMAB):c.*1088A>T rs142486697 0.00303
NM_052845.4(MMAB):c.*1685G>A rs117011771 0.00244
NM_052845.4(MMAB):c.*1067C>T rs143292900 0.00226
NM_052845.4(MMAB):c.*2342G>A rs72650176 0.00162
NM_052845.4(MMAB):c.*1988C>T rs183354300 0.00111
NM_052845.4(MMAB):c.*2023C>T rs546885397 0.00091
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956 0.00085
NM_052845.4(MMAB):c.*3265A>G rs776804847 0.00050
NM_052845.4(MMAB):c.*961G>A rs541447661 0.00041
NM_052845.4(MMAB):c.*2740G>A rs139886832 0.00035
NM_052845.4(MMAB):c.*3043T>G rs771530065 0.00031
NM_052845.4(MMAB):c.*503G>A rs766339289 0.00031
NM_052845.4(MMAB):c.*2051C>T rs775263273 0.00026
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276 0.00021
NM_052845.4(MMAB):c.*3142G>A rs747166756 0.00020
NM_052845.4(MMAB):c.*2914G>A rs759971406 0.00019
NM_052845.4(MMAB):c.*2636A>G rs748949434 0.00017
NM_052845.4(MMAB):c.*554G>A rs562420933 0.00016
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384 0.00014
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) rs111678627 0.00014
NM_052845.4(MMAB):c.*2053C>T rs545623412 0.00013
NM_052845.4(MMAB):c.*1482C>T rs576738108 0.00012
NM_052845.4(MMAB):c.*1689C>T rs886093880 0.00011
NM_052845.4(MMAB):c.*3074C>T rs186602321 0.00011
NM_052845.4(MMAB):c.*2503G>A rs886048916 0.00010
NM_052845.4(MMAB):c.*509C>T rs886048923 0.00010
NM_052845.4(MMAB):c.*301C>T rs1053960970 0.00009
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022 0.00009
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720 0.00009
NM_052845.4(MMAB):c.584+15G>A rs750655720 0.00008
NM_052845.4(MMAB):c.644+7G>A rs147637814 0.00008
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu) rs138708209 0.00007
NM_052845.4(MMAB):c.*1683G>A rs572832766 0.00006
NM_052845.4(MMAB):c.*335G>A rs745373257 0.00006
NM_052845.4(MMAB):c.*691A>C rs886048922 0.00006
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121 0.00006
NM_052845.4(MMAB):c.158C>T (p.Pro53Leu) rs764683053 0.00006
NM_052845.4(MMAB):c.*424G>A rs551461624 0.00005
NM_052845.4(MMAB):c.*2679G>C rs546327751 0.00004
NM_052845.4(MMAB):c.*588C>T rs1214904926 0.00004
NM_052845.4(MMAB):c.*815T>C rs776724872 0.00004
NM_052845.4(MMAB):c.542C>T (p.Ala181Val) rs764164596 0.00004
NM_052845.4(MMAB):c.*1428C>T rs757325398 0.00003
NM_052845.4(MMAB):c.*2739C>T rs759550993 0.00003
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802 0.00003
NM_052845.4(MMAB):c.*1747A>G rs886048917 0.00002
NM_052845.4(MMAB):c.*2619A>T rs778528128 0.00002
NM_052845.4(MMAB):c.*2783G>A rs1012338830 0.00002
NM_052845.4(MMAB):c.*2890C>T rs1005573398 0.00002
NM_052845.4(MMAB):c.*2913C>T rs901387869 0.00001
NM_052845.4(MMAB):c.*716C>T rs886048921 0.00001
NM_052845.4(MMAB):c.254C>T (p.Ala85Val) rs770743560 0.00001
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) rs749936057 0.00001
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368 0.00001
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu) rs940651669 0.00001
NM_052845.4(MMAB):c.*1076_*1079del rs886048920
NM_052845.4(MMAB):c.*1121C>T rs562046988
NM_052845.4(MMAB):c.*1400G>A rs1883946986
NM_052845.4(MMAB):c.*1554_*1556del rs886048918
NM_052845.4(MMAB):c.*1554del rs886048919
NM_052845.4(MMAB):c.*1576_*1578del rs34507867
NM_052845.4(MMAB):c.*1577_*1578del rs34507867
NM_052845.4(MMAB):c.*1578del rs34507867
NM_052845.4(MMAB):c.*1748_*1752dup rs746823302
NM_052845.4(MMAB):c.*1859TA[10] rs10623308
NM_052845.4(MMAB):c.*2150A>G rs781473185
NM_052845.4(MMAB):c.*2326C>G rs1210681751
NM_052845.4(MMAB):c.*2392C>T rs1883900272
NM_052845.4(MMAB):c.*2736G>C rs747163137
NM_052845.4(MMAB):c.*2950C>T rs766894935
NM_052845.4(MMAB):c.*3027T>C rs1883879729
NM_052845.4(MMAB):c.*3152A>T rs886048915
NM_052845.4(MMAB):c.*3260G>A rs1883871954
NM_052845.4(MMAB):c.*3296G>A rs777939885
NM_052845.4(MMAB):c.*336TG[19] rs67024670
NM_052845.4(MMAB):c.*336TG[20] rs67024670
NM_052845.4(MMAB):c.*336TG[21] rs67024670
NM_052845.4(MMAB):c.*336TG[23] rs67024670
NM_052845.4(MMAB):c.*336TG[24] rs67024670
NM_052845.4(MMAB):c.*336TG[25] rs67024670
NM_052845.4(MMAB):c.*348T>G rs1883987573
NM_052845.4(MMAB):c.*364_*378delinsAGA rs886048926
NM_052845.4(MMAB):c.*366_*378delinsAGA rs886048925
NM_052845.4(MMAB):c.*368_*378delinsA rs886048924
NM_052845.4(MMAB):c.*368_*378delinsAGA rs886048924
NM_052845.4(MMAB):c.*380AG[3] rs370296168
NM_052845.4(MMAB):c.*380AG[5] rs370296168
NM_052845.4(MMAB):c.*422T>C rs1883979155
NM_052845.4(MMAB):c.*710C>T rs538702791
NM_052845.4(MMAB):c.378G>T (p.Ser126=) rs749452007
NM_052845.4(MMAB):c.593C>T (p.Pro198Leu) rs886048927

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