ClinVar Miner

List of variants in gene FAH reported as uncertain significance by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
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.462C>A (p.His154Gln) rs144234072 0.00038
NM_000137.4(FAH):c.841C>A (p.Pro281Thr) rs199820704 0.00013
NM_000137.4(FAH):c.715A>T (p.Ile239Phe) rs144228661 0.00012
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.648C>A (p.Ile216=) rs147016995 0.00010
NM_000137.4(FAH):c.1097C>T (p.Ser366Leu) rs372685249 0.00009
NM_000137.4(FAH):c.302A>G (p.Glu101Gly) rs758347578 0.00006
NM_000137.4(FAH):c.81+8G>A rs188046704 0.00004
NM_000137.4(FAH):c.1022G>A (p.Arg341Gln) rs903038605 0.00003
NM_000137.4(FAH):c.10A>C (p.Ile4Leu) rs754336457 0.00003
NM_000137.4(FAH):c.391C>T (p.Arg131Trp) rs147946196 0.00002
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.296A>G (p.Asp99Gly) rs547847694 0.00001
NM_000137.4(FAH):c.*1G>A rs2041369631
NM_000137.4(FAH):c.1196A>C (p.Asp399Ala) rs2041368892
NM_000137.4(FAH):c.192+9T>C rs1386784352
NM_000137.4(FAH):c.452A>G (p.Asn151Ser) rs377283883
NM_000137.4(FAH):c.553+8A>G rs1447400619
NM_000137.4(FAH):c.607-10C>G rs2041245977
NM_000137.4(FAH):c.607G>A (p.Ala203Thr) rs2041246142
NM_000137.4(FAH):c.645G>T (p.Pro215=) rs151221329
NM_000137.4(FAH):c.710G>A (p.Arg237Gln) rs2041253905

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