ClinVar Miner

List of variants in gene MMAA reported as likely benign

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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_172250.3(MMAA):c.*1952dup rs150630369
NM_172250.3(MMAA):c.*2142T>C rs72723824
NM_172250.3(MMAA):c.*2372T>A rs74719174
NM_172250.3(MMAA):c.*2622_*2625del rs60186480
NM_172250.3(MMAA):c.*2658G>A rs72723825
NM_172250.3(MMAA):c.*306T>A rs74409983
NM_172250.3(MMAA):c.*3274del rs33978754
NM_172250.3(MMAA):c.*3621G>A rs55770806
NM_172250.3(MMAA):c.*3824C>A rs72950842
NM_172250.3(MMAA):c.*4119del rs200143270
NM_172250.3(MMAA):c.*4336A>G rs138752110
NM_172250.3(MMAA):c.*434C>T rs72950841
NM_172250.3(MMAA):c.-56A>G rs4835011
NM_172250.3(MMAA):c.-71G>C rs992491091
NM_172250.3(MMAA):c.1002G>A (p.Gly334=)
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655
NM_172250.3(MMAA):c.1179A>G (p.Glu393=)
NM_172250.3(MMAA):c.1236A>G (p.Lys412=) rs184111056
NM_172250.3(MMAA):c.129G>A (p.Pro43=)
NM_172250.3(MMAA):c.15A>G (p.Leu5=)
NM_172250.3(MMAA):c.169C>T (p.Leu57=)
NM_172250.3(MMAA):c.222C>T (p.His74=)
NM_172250.3(MMAA):c.440-5C>T
NM_172250.3(MMAA):c.57A>G (p.Ala19=)
NM_172250.3(MMAA):c.597G>A (p.Glu199=) rs116773849
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679
NM_172250.3(MMAA):c.729C>T (p.Thr243=) rs138111772
NM_172250.3(MMAA):c.733+13T>C rs768662983
NM_172250.3(MMAA):c.734-8A>G
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553
NM_172250.3(MMAA):c.787C>T (p.Leu263=)
NM_172250.3(MMAA):c.795A>C (p.Pro265=)
NM_172250.3(MMAA):c.879A>G (p.Gly293=)
NM_172250.3(MMAA):c.912G>A (p.Ala304=) rs371769807
NM_172250.3(MMAA):c.966A>G (p.Pro322=)
NM_172250.3(MMAA):c.970-5G>A rs370814663
NM_172250.3(MMAA):c.970-6C>T rs774402841

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