ClinVar Miner

List of variants in gene MMAA studied for not provided

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Total variants: 15
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HGVS dbSNP
NM_172250.3(MMAA):c.1034del (p.Phe345fs) rs398124552
NM_172250.3(MMAA):c.1104G>A (p.Trp368Ter) rs1131692023
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile) rs1057520160
NM_172250.3(MMAA):c.334C>T (p.His112Tyr) rs886043838
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.494A>G (p.Lys165Arg) rs199809221
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
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.733+276T>G
NM_172250.3(MMAA):c.820-169T>C
NM_172250.3(MMAA):c.829dup (p.Arg277fs) rs774958165
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) rs571038432

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