ClinVar Miner

Variants in gene FAH with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 27
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HGVS dbSNP gnomAD frequency
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.243G>A (p.Ala81=) rs36122289 0.00041
NM_000137.4(FAH):c.747A>G (p.Pro249=) rs138757552 0.00022
NM_000137.4(FAH):c.150T>C (p.Phe50=) rs186471906 0.00016
NM_000137.4(FAH):c.741C>T (p.Leu247=) rs145851627 0.00016
NM_000137.4(FAH):c.715A>T (p.Ile239Phe) rs144228661 0.00012
NM_000137.4(FAH):c.864C>T (p.Cys288=) rs370273424 0.00012
NM_000137.4(FAH):c.870C>T (p.Asp290=) rs377480457 0.00011
NM_000137.4(FAH):c.648C>A (p.Ile216=) rs147016995 0.00010
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.1029G>A (p.Gly343=) rs772334351 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.1180+10G>A rs758464032 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.1152G>T (p.Leu384=) rs886051497
NM_000137.4(FAH):c.147C>G (p.Leu49=) rs886051496
NM_000137.4(FAH):c.192+9T>C rs1386784352
NM_000137.4(FAH):c.249G>A (p.Val83=) rs370095143
NM_000137.4(FAH):c.455+9T>C rs531129429
NM_000137.4(FAH):c.645G>T (p.Pro215=) rs151221329
NM_000137.4(FAH):c.707-7_707-5del rs779284513
NM_000137.4(FAH):c.90G>C (p.Pro30=) rs202195651

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