ClinVar Miner

List of variants in gene MMAA studied for not provided

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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_172250.3(MMAA):c.820-169T>C rs2279717 0.49020
NM_172250.3(MMAA):c.734-74G>A rs11721510 0.28813
NM_172250.3(MMAA):c.439+262C>T rs4835239 0.25608
NM_172250.3(MMAA):c.439+108A>G rs4835012 0.25606
NM_172250.3(MMAA):c.733+276T>G rs17014946 0.24634
NM_172250.3(MMAA):c.819+168C>G rs72723819 0.07371
NM_172250.3(MMAA):c.970-216A>T rs72723822 0.04980
NM_172250.3(MMAA):c.*306T>A rs74409983 0.03738
NM_172250.3(MMAA):c.439+178A>G rs115954832 0.02234
NM_172250.3(MMAA):c.820-101T>C rs58912137 0.01804
NM_172250.3(MMAA):c.563-71C>G rs77697341 0.01700
NM_172250.3(MMAA):c.819+252C>T rs72950836 0.01502
NM_172250.3(MMAA):c.*600G>A rs112882351 0.00820
NM_172250.3(MMAA):c.820-139G>A rs139995128 0.00362
NM_172250.3(MMAA):c.-14C>T rs138947726 0.00164
NM_172250.3(MMAA):c.102C>T (p.Leu34=) rs146372922 0.00135
NM_172250.3(MMAA):c.879A>G (p.Gly293=) rs146352309 0.00072
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys) rs144313458 0.00027
NM_172250.3(MMAA):c.701C>T (p.Ala234Val) rs367609164 0.00019
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679 0.00017
NM_172250.3(MMAA):c.1079G>A (p.Arg360Gln) rs147148157 0.00008
NM_172250.3(MMAA):c.733+13T>C rs768662983 0.00007
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992 0.00003
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680 0.00001
NM_172250.3(MMAA):c.334C>T (p.His112Tyr) rs886043838 0.00001
NM_172250.3(MMAA):c.494A>G (p.Lys165Arg) rs199809221 0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863 0.00001
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472 0.00001
NM_172250.3(MMAA):c.651dup (p.Gly218fs) rs1314623572 0.00001
NM_172250.3(MMAA):c.733+1G>A rs779939886 0.00001
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) rs571038432 0.00001
NM_172250.3(MMAA):c.-65-249A>C rs80026420
NM_172250.3(MMAA):c.-66+7915G>A
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.169C>T (p.Leu57=) rs1578877557
NM_172250.3(MMAA):c.450dup (p.Pro151fs) rs754973022
NM_172250.3(MMAA):c.489del (p.Phe163fs) rs1553958143
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.829dup (p.Arg277fs) rs774958165

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