ClinVar Miner

List of variants in gene MMAB reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932 0.00272
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.620C>T (p.Ala207Val) rs61739388 0.00048
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn) rs147297426 0.00032
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384 0.00014
NM_052845.4(MMAB):c.503C>T (p.Thr168Met) rs200690789 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_052845.4(MMAB):c.584+6A>G rs767719463 0.00012
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720 0.00009
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu) rs138708209 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121 0.00006
NM_052845.4(MMAB):c.256G>A (p.Val86Met) rs143935056 0.00006
NM_052845.4(MMAB):c.346A>G (p.Lys116Glu) rs551289581 0.00005
NM_052845.4(MMAB):c.665C>T (p.Thr222Met) rs142070439 0.00005
NM_052845.4(MMAB):c.349-9G>A rs372577644 0.00004
NM_052845.4(MMAB):c.402G>A (p.Ser134=) rs756766385 0.00004
NM_052845.4(MMAB):c.471C>T (p.Ile157=) rs369581051 0.00004
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.700C>T (p.Gln234Ter) rs369296618 0.00004
NM_052845.4(MMAB):c.291-1G>A rs199971687 0.00003
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu) rs765917146 0.00003
NM_052845.4(MMAB):c.370G>A (p.Val124Ile) rs573706523 0.00003
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu) rs368584846 0.00003
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys) rs199853576 0.00003
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802 0.00003
NM_052845.4(MMAB):c.298C>T (p.Leu100=) rs751553040 0.00002
NM_052845.4(MMAB):c.372C>T (p.Val124=) rs371092213 0.00002
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser) rs193015172 0.00002
NM_052845.4(MMAB):c.589G>T (p.Val197Leu) rs780166156 0.00002
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala) rs759809454 0.00001
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu) rs571555515 0.00001
NM_052845.4(MMAB):c.349-10C>T rs896742047 0.00001
NM_052845.4(MMAB):c.424T>C (p.Tyr142His) rs886198506 0.00001
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089 0.00001
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368 0.00001
NM_052845.4(MMAB):c.543G>A (p.Ala181=) rs145411521 0.00001
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708 0.00001
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284 0.00001
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr) rs147297426
NM_052845.4(MMAB):c.222A>T (p.Glu74Asp) rs1389815526
NM_052845.4(MMAB):c.378G>A (p.Ser126=) rs749452007
NM_052845.4(MMAB):c.406C>A (p.Arg136=) rs763783083
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr) rs1439180009
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del) rs1555274496
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) rs1555274496
NM_052845.4(MMAB):c.576C>T (p.Ala192=) rs757562796
NM_052845.4(MMAB):c.735C>T (p.Ala245=) rs377015836

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