ClinVar Miner

List of variants reported as benign for Biotin-responsive basal ganglia disease by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala) rs34507036 0.09001
NM_025243.4(SLC19A3):c.435C>T (p.Ser145=) rs76517176 0.04166
NM_025243.4(SLC19A3):c.549T>C (p.Ala183=) rs74693100 0.04158
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804 0.03276
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459 0.01546
NM_025243.4(SLC19A3):c.979+19A>G rs112669453 0.01035
NM_025243.4(SLC19A3):c.756G>A (p.Leu252=) rs12185721 0.00883
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989 0.00618
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_025243.4(SLC19A3):c.546G>A (p.Val182=) rs143188189 0.00263
NM_025243.4(SLC19A3):c.1132A>G (p.Ile378Val) rs117864472 0.00090
NM_025243.4(SLC19A3):c.18T>A (p.Thr6=) rs141093593 0.00078
NM_025243.4(SLC19A3):c.99A>G (p.Pro33=) rs17853011 0.00020
NM_025243.4(SLC19A3):c.522C>A (p.Val174=) rs766224051 0.00006
NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu) rs368364131 0.00001
NM_025243.4(SLC19A3):c.968C>G (p.Ala323Gly) rs758025317 0.00001
NM_025243.4(SLC19A3):c.360G>A (p.Glu120=) rs566837952
NM_025243.4(SLC19A3):c.980-4del rs11334205
NM_025243.4(SLC19A3):c.980-5_980-4del rs11334205

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