ClinVar Miner

List of variants reported as benign for Tyrosinemia type I by Genome-Nilou Lab

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.553+33A>G rs1545119 0.73027
NM_000137.4(FAH):c.838-196A>G rs11072883 0.72099
NM_000137.4(FAH):c.82-74T>C rs1370276 0.65071
NM_000137.4(FAH):c.961-35C>A rs2043691 0.61029
NM_000137.4(FAH):c.193-23T>C rs1370274 0.59414
NM_000137.4(FAH):c.82-13G>A rs1370275 0.45099
NM_000137.4(FAH):c.455+67T>C rs2114716 0.43155
NM_000137.4(FAH):c.364+85T>G rs733679 0.43033
NM_000137.4(FAH):c.960+115G>A rs2162550 0.25281
NM_000137.4(FAH):c.706+79A>G rs7180031 0.23394
NM_001374377.1(FAH):c.-30+45G>C rs112474268 0.23230
NM_000137.4(FAH):c.*94T>C rs1049194 0.12301
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_000137.4(FAH):c.1056C>T (p.Ser352=) rs1801374 0.06041
NM_000137.4(FAH):c.455+29G>A rs2278204 0.01872
NM_000137.4(FAH):c.315-14G>A rs139830755 0.00521
NM_000137.4(FAH):c.314+49G>A rs1370273

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