ClinVar Miner

List of variants in gene MMAA reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_172250.3(MMAA):c.820-139G>A rs139995128 0.00362
NM_172250.3(MMAA):c.597G>A (p.Glu199=) rs116773849 0.00262
NM_172250.3(MMAA):c.-14C>T rs138947726 0.00164
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679 0.00017
NM_172250.3(MMAA):c.729C>T (p.Thr243=) rs138111772 0.00014
NM_172250.3(MMAA):c.1236A>G (p.Lys412=) rs184111056 0.00007
NM_172250.3(MMAA):c.733+13T>C rs768662983 0.00007
NM_172250.3(MMAA):c.970-6C>T rs774402841 0.00002

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