ClinVar Miner

List of variants in gene FAH reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.192+212G>A rs16971784 0.01864
NM_000137.4(FAH):c.*88C>T rs113381157 0.01818
NM_000137.4(FAH):c.1063-274G>C rs116993568 0.01728
NM_000137.4(FAH):c.707-122G>A rs112775316 0.01625
NM_000137.4(FAH):c.1180+83A>G rs148363797 0.01142
NM_000137.4(FAH):c.1063-127C>A rs56104030 0.00692
NM_000137.4(FAH):c.192+109G>A rs11072882 0.00610
NM_000137.4(FAH):c.837+277G>A rs148725050 0.00528
NM_000137.4(FAH):c.838-50G>A rs116638928 0.00503
NM_000137.4(FAH):c.837+97G>A rs369462541 0.00471
NM_000137.4(FAH):c.707-63G>A rs191028698 0.00468
NM_000137.4(FAH):c.837+120C>T rs183545173 0.00332
NM_000137.4(FAH):c.554-20T>G rs199501793 0.00272
NM_000137.4(FAH):c.1259G>A (p.Ter420=) rs61747586 0.00241
NM_000137.4(FAH):c.1098G>A (p.Ser366=) rs35033541 0.00137
NM_000137.4(FAH):c.961-17G>A rs372657388 0.00133
NM_000137.4(FAH):c.553+10C>T rs201051426 0.00067
NM_000137.4(FAH):c.81+12G>A rs200319726 0.00048
NM_000137.4(FAH):c.243G>A (p.Ala81=) rs36122289 0.00041
NM_000137.4(FAH):c.706+9T>C rs368042270 0.00041
NM_000137.4(FAH):c.150T>C (p.Phe50=) rs186471906 0.00016
NM_000137.4(FAH):c.-43G>T rs200704926 0.00014
NM_000137.4(FAH):c.1077C>T (p.Phe359=) rs145570259 0.00012
NM_000137.4(FAH):c.870C>T (p.Asp290=) rs377480457 0.00011
NM_000137.4(FAH):c.961-15G>A rs376633948 0.00011
NM_000137.4(FAH):c.1026G>A (p.Pro342=) rs748360797 0.00005
NM_000137.4(FAH):c.82-14C>T rs746674102 0.00004
NM_000137.4(FAH):c.975G>C (p.Thr325=) rs776473288 0.00004
NM_000137.4(FAH):c.411C>T (p.Val137=) rs757871102 0.00002
NM_000137.4(FAH):c.455+19G>C rs774022499 0.00001
NM_000137.4(FAH):c.-7C>T rs1555440078
NM_000137.4(FAH):c.1062G>A (p.Pro354=) rs767329352
NM_000137.4(FAH):c.314+18A>G rs929155893
NM_000137.4(FAH):c.365-109A>G rs114890326
NM_000137.4(FAH):c.455+9T>C rs531129429
NM_000137.4(FAH):c.961-16C>T rs780170029

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