ClinVar Miner

List of variants in gene FAH reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (1030):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_000137.3(FAH):c.1021C>T (p.Arg341Trp) rs11555096
NM_000137.3(FAH):c.1205G>A (p.Arg402His) rs147796599
NM_000137.3(FAH):c.1259G>A (p.Ter420=) rs61747586
NM_000137.3(FAH):c.150T>C (p.Phe50=) rs186471906
NM_000137.3(FAH):c.243G>A (p.Ala81=) rs36122289
NM_000137.3(FAH):c.249G>A (p.Val83=) rs370095143
NM_000137.3(FAH):c.296A>G (p.Asp99Gly) rs547847694
NM_000137.3(FAH):c.315-14G>A rs139830755
NM_000137.3(FAH):c.565G>A (p.Val189Ile) rs145389125
NM_000137.3(FAH):c.648C>A (p.Ile216=) rs147016995
NM_000137.3(FAH):c.706+9T>C rs368042270
NM_000137.3(FAH):c.707-7_707-5del rs779284513
NM_000137.3(FAH):c.715A>T (p.Ile239Phe) rs144228661
NM_000137.3(FAH):c.747A>G (p.Pro249=) rs138757552
NM_000137.3(FAH):c.831G>A (p.Pro277=) rs372980573
NM_000137.3(FAH):c.843C>G (p.Pro281=) rs755556442
NM_000137.3(FAH):c.961-17G>A rs372657388
NM_000137.4(FAH):c.1158C>T (p.Asp386=) rs767824538
NM_000137.4(FAH):c.181G>T (p.Val61Phe) rs151264725
NM_000137.4(FAH):c.192+9T>C rs1386784352
NM_000137.4(FAH):c.391C>T (p.Arg131Trp) rs147946196
NM_000137.4(FAH):c.441G>A (p.Ala147=) rs141863249
NM_000137.4(FAH):c.564C>T (p.Pro188=) rs149988384
NM_000137.4(FAH):c.741C>T (p.Leu247=) rs145851627
NM_000137.4(FAH):c.961-8G>T rs932983420
NM_000137.4(FAH):c.996C>T (p.His332=) rs182877963

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