ClinVar Miner

List of variants in gene FAH reported as benign by Preventiongenetics, part of Exact Sciences

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.553+33A>G rs1545119 0.73027
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.267G>C (p.Leu89=) rs33929922 0.07529
NM_000137.4(FAH):c.1056C>T (p.Ser352=) rs1801374 0.06041
NM_000137.4(FAH):c.1180+4A>G rs60585303 0.04595
NM_000137.4(FAH):c.455+29G>A rs2278204 0.01872
NM_000137.4(FAH):c.*40C>T rs3210172 0.00001
NM_000137.4(FAH):c.*38A>C rs1049181
NM_000137.4(FAH):c.314+49G>A rs1370273
NM_000137.4(FAH):c.81+38dup rs60184934

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