ClinVar Miner

List of variants in gene FAH reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 48
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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.1098G>A (p.Ser366=) rs35033541 0.00137
NM_000137.4(FAH):c.565G>A (p.Val189Ile) rs145389125 0.00108
NM_000137.4(FAH):c.1205G>A (p.Arg402His) rs147796599 0.00092
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.706+9T>C rs368042270 0.00041
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000137.4(FAH):c.747A>G (p.Pro249=) rs138757552 0.00022
NM_000137.4(FAH):c.741C>T (p.Leu247=) rs145851627 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.715A>T (p.Ile239Phe) rs144228661 0.00012
NM_000137.4(FAH):c.870C>T (p.Asp290=) rs377480457 0.00011
NM_000137.4(FAH):c.996C>T (p.His332=) rs182877963 0.00011
NM_000137.4(FAH):c.1097C>T (p.Ser366Leu) rs372685249 0.00009
NM_000137.4(FAH):c.1008C>T (p.Asn336=) rs373285527 0.00008
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter) rs121965075 0.00008
NM_000137.4(FAH):c.1026G>A (p.Pro342=) rs748360797 0.00005
NM_000137.4(FAH):c.1204C>T (p.Arg402Cys) rs780378868 0.00004
NM_000137.4(FAH):c.408C>T (p.Asn136=) rs111972793 0.00004
NM_000137.4(FAH):c.441G>A (p.Ala147=) rs141863249 0.00004
NM_000137.4(FAH):c.975G>C (p.Thr325=) rs776473288 0.00004
NM_000137.4(FAH):c.843C>G (p.Pro281=) rs755556442 0.00003
NM_000137.4(FAH):c.391C>T (p.Arg131Trp) rs147946196 0.00002
NM_000137.4(FAH):c.*40C>T rs3210172 0.00001
NM_000137.4(FAH):c.237G>A (p.Lys79=) rs1490117712 0.00001
NM_000137.4(FAH):c.296A>G (p.Asp99Gly) rs547847694 0.00001
NM_000137.4(FAH):c.697G>A (p.Asp233Asn) rs144902834 0.00001
NM_000137.4(FAH):c.933G>A (p.Ala311=) rs375166793 0.00001
NM_000137.4(FAH):c.*38A>C rs1049181
NM_000137.4(FAH):c.1117A>G (p.Ile373Val)
NM_000137.4(FAH):c.314+49G>A rs1370273
NM_000137.4(FAH):c.441G>T (p.Ala147=) rs141863249
NM_000137.4(FAH):c.455+9T>C rs531129429
NM_000137.4(FAH):c.456-3C>T
NM_000137.4(FAH):c.663C>T (p.Ala221=) rs370892975
NM_000137.4(FAH):c.783G>T (p.Pro261=) rs777792671
NM_000137.4(FAH):c.81+38dup rs60184934
NM_000137.4(FAH):c.837G>A (p.Gln279=)
NM_000137.4(FAH):c.838-10G>T

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