ClinVar Miner

List of variants in gene FAH reported as uncertain significance by Invitae

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.462C>A (p.His154Gln) rs144234072 0.00038
NM_000137.4(FAH):c.583C>G (p.Leu195Val) rs1002962662 0.00013
NM_000137.4(FAH):c.841C>A (p.Pro281Thr) rs199820704 0.00013
NM_000137.4(FAH):c.1193G>A (p.Gly398Glu) rs141946827 0.00010
NM_000137.4(FAH):c.412G>A (p.Gly138Arg) rs143243347 0.00010
NM_000137.4(FAH):c.1097C>T (p.Ser366Leu) rs372685249 0.00009
NM_000137.4(FAH):c.1204C>T (p.Arg402Cys) rs780378868 0.00004
NM_000137.4(FAH):c.484C>T (p.Arg162Cys) rs959533704 0.00004
NM_000137.4(FAH):c.978G>T (p.Met326Ile) rs374655382 0.00004
NM_000137.4(FAH):c.1022G>A (p.Arg341Gln) rs903038605 0.00003
NM_000137.4(FAH):c.82-3T>C rs368921640 0.00003
NM_000137.4(FAH):c.880A>C (p.Thr294Pro) rs370634385 0.00003
NM_000137.4(FAH):c.1102A>C (p.Lys368Gln) rs770665329 0.00002
NM_000137.4(FAH):c.1039G>A (p.Ala347Thr) rs376563006 0.00001
NM_000137.4(FAH):c.1078G>A (p.Gly360Ser) rs779705179 0.00001
NM_000137.4(FAH):c.1159G>A (p.Gly387Arg) rs753539920 0.00001
NM_000137.4(FAH):c.155G>A (p.Gly52Asp) rs780944655 0.00001
NM_000137.4(FAH):c.407A>G (p.Asn136Ser) rs768365621 0.00001
NM_000137.4(FAH):c.1003G>A (p.Val335Ile)
NM_000137.4(FAH):c.1013G>A (p.Cys338Tyr)
NM_000137.4(FAH):c.1061C>T (p.Pro354Leu) rs143326948
NM_000137.4(FAH):c.1062G>A (p.Pro354=) rs767329352
NM_000137.4(FAH):c.1097_1099del (p.Ser366del)
NM_000137.4(FAH):c.1124T>C (p.Leu375Pro)
NM_000137.4(FAH):c.1181G>A (p.Gly394Glu)
NM_000137.4(FAH):c.1213_1214delinsCA (p.Phe405His) rs1567123622
NM_000137.4(FAH):c.128T>C (p.Leu43Pro)
NM_000137.4(FAH):c.224A>G (p.Gln75Arg)
NM_000137.4(FAH):c.23A>C (p.Glu8Ala) rs2041065243
NM_000137.4(FAH):c.268T>A (p.Ser90Thr)
NM_000137.4(FAH):c.272T>G (p.Val91Gly) rs1344024365
NM_000137.4(FAH):c.295G>A (p.Asp99Asn) rs1325951062
NM_000137.4(FAH):c.307C>T (p.Arg103Trp)
NM_000137.4(FAH):c.365-2_399dup
NM_000137.4(FAH):c.369C>A (p.Asp123Glu)
NM_000137.4(FAH):c.395A>G (p.Gln132Arg)
NM_000137.4(FAH):c.455+3A>T
NM_000137.4(FAH):c.494C>G (p.Ser165Cys) rs2142097922
NM_000137.4(FAH):c.496G>C (p.Val166Leu)
NM_000137.4(FAH):c.502G>A (p.Val168Met)
NM_000137.4(FAH):c.529A>G (p.Met177Val)
NM_000137.4(FAH):c.52C>G (p.Pro18Ala)
NM_000137.4(FAH):c.532G>C (p.Gly178Arg) rs2041210221
NM_000137.4(FAH):c.542_553+4dup rs746554047
NM_000137.4(FAH):c.580A>G (p.Lys194Glu)
NM_000137.4(FAH):c.59G>A (p.Gly20Asp)
NM_000137.4(FAH):c.607-6T>G rs80338896
NM_000137.4(FAH):c.615T>A (p.Phe205Leu) rs2041246277
NM_000137.4(FAH):c.633A>T (p.Arg211Ser)
NM_000137.4(FAH):c.678T>G (p.Phe226Leu) rs2041247325
NM_000137.4(FAH):c.704G>A (p.Ser235Asn)
NM_000137.4(FAH):c.710G>A (p.Arg237Gln) rs2041253905
NM_000137.4(FAH):c.778T>A (p.Ser260Thr)
NM_000137.4(FAH):c.79G>C (p.Asp27His)
NM_000137.4(FAH):c.820G>C (p.Val274Leu)
NM_000137.4(FAH):c.827A>G (p.Asn276Ser)
NM_000137.4(FAH):c.827A>T (p.Asn276Ile)
NM_000137.4(FAH):c.830C>T (p.Pro277Leu)
NM_000137.4(FAH):c.837+5G>A
NM_000137.4(FAH):c.837G>A (p.Gln279=)
NM_000137.4(FAH):c.845G>A (p.Arg282Lys)
NM_000137.4(FAH):c.866A>G (p.His289Arg)
NM_000137.4(FAH):c.932C>T (p.Ala311Val) rs529709868
NM_000137.4(FAH):c.953A>G (p.Asn318Ser)
NM_000137.4(FAH):c.960+5G>A
NM_000137.4(FAH):c.977T>C (p.Met326Thr) rs2142107717

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