ClinVar Miner

Variants in gene MMAB with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932 0.00272
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388 0.00048
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276 0.00021
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.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.150G>A (p.Ser50=) rs754357121 0.00006
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.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.349-10C>T rs896742047 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.378G>A (p.Ser126=) rs749452007
NM_052845.4(MMAB):c.576C>T (p.Ala192=) rs757562796

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