ClinVar Miner

List of variants in gene FHL1 reported as uncertain significance by GeneDx

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu) rs781053469 0.00006
NM_001159702.3(FHL1):c.-101+3A>G rs895540444 0.00004
NM_001159699.2(FHL1):c.644G>A (p.Arg215His) rs886043053 0.00002
NM_001159699.2(FHL1):c.194C>T (p.Ala65Val) rs372301312 0.00001
NM_001159699.2(FHL1):c.303C>G (p.Asn101Lys) rs762126486 0.00001
NM_001159699.2(FHL1):c.3G>A (p.Met1Ile) rs1421289849 0.00001
NM_001159699.2(FHL1):c.457G>A (p.Gly153Arg) rs191071512 0.00001
NM_001159702.3(FHL1):c.797G>A (p.Arg266Gln) rs199818971 0.00001
NM_001159699.2(FHL1):c.167G>A (p.Cys56Tyr) rs1556638703
NM_001159699.2(FHL1):c.190G>A (p.Gly64Ser) rs1467233713
NM_001159699.2(FHL1):c.404G>C (p.Gly135Ala) rs886042453
NM_001159699.2(FHL1):c.421G>T (p.Asp141Tyr) rs2148375768
NM_001159699.2(FHL1):c.436A>G (p.Ser146Gly) rs878854460
NM_001159699.2(FHL1):c.534C>G (p.Cys178Trp) rs377693754
NM_001159699.2(FHL1):c.536T>G (p.Val179Gly) rs1556639237
NM_001159699.2(FHL1):c.593A>G (p.His198Arg) rs1085307698
NM_001159699.2(FHL1):c.621C>G (p.Cys207Trp) rs2148378483
NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr) rs2148371537
NM_001159699.2(FHL1):c.813C>G (p.Cys271Trp) rs869025432
NM_001159702.3(FHL1):c.783del (p.Ser262fs) rs2148381524
NM_001159702.3(FHL1):c.833C>T (p.Ser278Leu) rs2148381652
NM_001159702.3(FHL1):c.863G>A (p.Arg288Gln)

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