ClinVar Miner

List of variants in gene FAH reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.82-13G>A rs1370275 0.45099
NM_000137.3(FAH):c.*310T>A rs75212096 0.12315
NM_000137.4(FAH):c.*94T>C rs1049194 0.12301
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_000137.3(FAH):c.*284C>G rs79203348 0.06789
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.*88C>T rs113381157 0.01818
NM_000137.4(FAH):c.-34C>T rs142522569 0.01180
NM_000137.4(FAH):c.483C>T (p.Gly161=) rs116272698 0.00943
NM_000137.4(FAH):c.855G>A (p.Pro285=) rs73481171 0.00927
NM_000137.4(FAH):c.165C>T (p.Leu55=) rs28733633 0.00811
NM_000137.4(FAH):c.139A>G (p.Lys47Glu) rs34749737 0.00650
NM_000137.4(FAH):c.1098G>A (p.Ser366=) rs35033541 0.00137
NM_000137.4(FAH):c.921A>G (p.Gly307=) rs76338717 0.00135
NM_000137.4(FAH):c.1209C>T (p.Ile403=) rs111345782 0.00009
NM_000137.4(FAH):c.554-15C>T rs774367598

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