ClinVar Miner

List of variants in gene FAH reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.961-223T>C rs2043692 0.88875
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.914-316T>C rs10152142 0.50066
NM_000137.4(FAH):c.838-295C>T rs2278205 0.50018
NM_000137.4(FAH):c.707-107del rs58363292 0.49992
NM_000137.4(FAH):c.913+193G>T rs1863768 0.49971
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.706+202_706+203insAT rs3837742 0.30810
NM_000137.4(FAH):c.606+271G>A rs7166889 0.26591
NM_000137.4(FAH):c.960+115G>A rs2162550 0.25281
NM_000137.4(FAH):c.1181-210G>A rs12898575 0.12822
NM_000137.4(FAH):c.1181-204G>A rs12898576 0.12730
NM_000137.4(FAH):c.*94T>C rs1049194 0.12301
NM_000137.4(FAH):c.1180+113T>C rs61128916 0.12174
NM_000137.4(FAH):c.193-85C>T rs35880073 0.07535
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_000137.4(FAH):c.314+224C>G rs75782446 0.06977
NM_000137.3(FAH):c.*284C>G rs79203348 0.06789
NM_000137.4(FAH):c.1180+161A>G rs71397597 0.05519
NM_000137.4(FAH):c.913+156G>C rs79745256 0.05332
NM_000137.4(FAH):c.607-176T>C rs12439250 0.04587
NM_000137.4(FAH):c.456-267G>C rs112588563 0.04575
NM_000137.4(FAH):c.707-56G>A rs3752693 0.03999
NM_000137.4(FAH):c.1181-98C>T rs56793941 0.02685
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000137.4(FAH):c.914-297A>G rs28562328 0.01693
NM_000137.4(FAH):c.855G>A (p.Pro285=) rs73481171 0.00927
NM_000137.4(FAH):c.*38_*41del rs369845634
NM_000137.4(FAH):c.*45_*46insGTTT rs751787251
NM_000137.4(FAH):c.*51del rs200464452
NM_000137.4(FAH):c.1181-235C>T rs62006336
NM_000137.4(FAH):c.193-331_193-330del rs200674175
NM_000137.4(FAH):c.81+38dup rs60184934
NM_000137.4(FAH):c.81+39_81+57del rs554422109
NM_000137.4(FAH):c.838-173del rs3835063

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