ClinVar Miner

List of variants in gene MMAA reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553 0.07844
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655 0.04892
NM_172250.3(MMAA):c.138T>C (p.Ser46=) rs34702224 0.01204
NM_172250.3(MMAA):c.966A>G (p.Pro322=) rs150692463 0.00073
NM_172250.3(MMAA):c.57A>G (p.Ala19=) rs143211378 0.00035
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_172250.3(MMAA):c.729C>T (p.Thr243=) rs138111772 0.00014
NM_172250.3(MMAA):c.-4G>A rs374109118 0.00004
NM_172250.3(MMAA):c.378A>G (p.Val126=) rs750237065 0.00004
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992 0.00003
NM_172250.3(MMAA):c.585C>T (p.Thr195=) rs571797666 0.00002
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238 0.00001
NM_172250.3(MMAA):c.639del (p.Arg214fs) rs2126622813
NM_172250.3(MMAA):c.915A>G (p.Glu305=)

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