ClinVar Miner

List of variants in gene MMAB reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_052845.4(MMAB):c.348+105T>C rs10850380 0.58164
NM_052845.4(MMAB):c.584+254A>G rs2058805 0.58162
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_052845.4(MMAB):c.645-156T>C rs888192 0.57808
NM_052845.4(MMAB):c.134+286T>C rs12314392 0.48699
NM_052845.4(MMAB):c.348+147G>A rs10850379 0.40515
NM_052845.4(MMAB):c.290+63T>C rs11836136 0.32654
NM_052845.4(MMAB):c.135-241T>C rs12322541 0.32362
NM_052845.4(MMAB):c.349-207A>G rs11067271 0.18342
NM_052845.4(MMAB):c.519+157C>T rs2287180 0.17065
NM_052845.4(MMAB):c.520-128C>T rs2287181 0.17054
NM_052845.4(MMAB):c.520-96C>T rs11610545 0.17048
NM_052845.4(MMAB):c.644+212C>T rs35072126 0.16920
NM_052845.4(MMAB):c.520-139G>A rs12309115 0.11426
NM_052845.4(MMAB):c.645-247G>A rs12828717 0.11313
NM_052845.4(MMAB):c.585-204G>A rs2287182 0.10962
NM_052845.4(MMAB):c.*192T>C rs8228 0.10802
NM_052845.4(MMAB):c.585-174G>A rs2287183 0.08550
NM_052845.4(MMAB):c.348+177C>T rs61940511 0.08338
NM_052845.4(MMAB):c.584+24A>G rs78599682 0.07555
NM_052845.4(MMAB):c.585-262G>A rs72650185 0.05447
NM_052845.4(MMAB):c.196+279A>C rs72651703 0.05426
NM_052845.4(MMAB):c.584+251G>A rs68153744 0.05424
NM_052845.4(MMAB):c.644+213G>A rs112082462 0.05154
NM_052845.4(MMAB):c.290+204C>T rs113284916 0.04200
NM_052845.4(MMAB):c.585-203T>C rs74581509 0.01734
NM_052845.4(MMAB):c.520-127G>A rs114996305 0.01034
NM_052845.4(MMAB):c.585-127C>T rs116420868 0.00920
NM_052845.4(MMAB):c.584+51A>G rs775209162 0.00898
NM_052845.4(MMAB):c.134+203A>G rs67900037 0.00877
NM_052845.4(MMAB):c.644+72C>T rs7294475 0.00756
NM_052845.4(MMAB):c.349-17T>C rs72650187 0.00583
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932 0.00272
NM_052845.4(MMAB):c.519+98C>T rs185428244 0.00198
NM_052845.4(MMAB):c.135-38dup rs140204601 0.00165
NM_052845.4(MMAB):c.624C>T (p.Asn208=) rs146687452 0.00146
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956 0.00085
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_052845.4(MMAB):c.666G>A (p.Thr222=) rs369296142 0.00011
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022 0.00009
NM_052845.4(MMAB):c.584+15G>A rs750655720 0.00008
NM_052845.4(MMAB):c.346A>G (p.Lys116Glu) rs551289581 0.00005
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu) rs771053425 0.00003
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) rs746219370 0.00003
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802 0.00003
NM_052845.4(MMAB):c.645-4C>T rs1057521493 0.00001
NM_052845.4(MMAB):c.197-146C>A rs12830693
NM_052845.4(MMAB):c.348+19C>T rs1057522102
NM_052845.4(MMAB):c.421+14T>A rs760915792
NM_052845.4(MMAB):c.561C>G (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) rs1555274496
NM_052845.4(MMAB):c.568C>G (p.Arg190Gly) rs398124434
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.4(MMAB):c.615C>G (p.Thr205=) rs760629956
NM_052845.4(MMAB):c.644+60GCAGCGGT[3] rs72650184
NM_052845.4(MMAB):c.651T>G (p.Ser217Arg) rs2136192609

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