ClinVar Miner

List of variants in gene MMAA reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_172250.3(MMAA):c.-35A>T rs150259804
NM_172250.3(MMAA):c.-56A>G rs4835011
NM_172250.3(MMAA):c.-71G>C rs992491091
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655
NM_172250.3(MMAA):c.1104G>A (p.Trp368Ter) rs1131692023
NM_172250.3(MMAA):c.1236A>G (p.Lys412=) rs184111056
NM_172250.3(MMAA):c.138T>C (p.Ser46=) rs34702224
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_172250.3(MMAA):c.489del (p.Phe163fs) rs1553958143
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
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.64C>T (p.Arg22Ter) rs765799472
NM_172250.3(MMAA):c.701C>T (p.Ala234Val) rs367609164
NM_172250.3(MMAA):c.729C>T (p.Thr243=) rs138111772
NM_172250.3(MMAA):c.733+13T>C rs768662983
NM_172250.3(MMAA):c.733+276T>G
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553
NM_172250.3(MMAA):c.820-169T>C
NM_172250.3(MMAA):c.970-6C>T rs774402841
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) rs571038432

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