ClinVar Miner

List of variants in gene MMAB reported as uncertain significance for not provided

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Total variants: 12
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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.444G>A (p.Gly148=) rs117269384 0.00014
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
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.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_052845.4(MMAB):c.685A>G (p.Met229Val) rs371960953 0.00002
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284 0.00001
NM_052845.4(MMAB):c.519+10G>A rs771725706
NM_052845.4(MMAB):c.582A>T (p.Arg194Ser) rs1057519147
NM_052845.4(MMAB):c.651T>G (p.Ser217Arg) rs2136192609

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