ClinVar Miner

List of variants in gene MMAA reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_172250.3(MMAA):c.*600G>A rs112882351 0.00820
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.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679 0.00017
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680 0.00001
NM_172250.3(MMAA):c.651dup (p.Gly218fs) rs1314623572 0.00001
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993

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