ClinVar Miner

List of variants in gene FHL1 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001159699.2(FHL1):c.737-8C>T rs2076705 0.53498
NM_001159699.2(FHL1):c.737-13T>C rs11798700 0.01269
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01175
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651 0.00162
NM_001159699.2(FHL1):c.498C>T (p.Cys166=) rs145445372 0.00107
NM_001159699.2(FHL1):c.786C>T (p.His262=) rs141231353 0.00074
NM_001159699.2(FHL1):c.114G>A (p.Lys38=) rs140149764 0.00067
NM_001159699.2(FHL1):c.225C>A (p.Arg75=) rs143791173 0.00037
NM_001159699.2(FHL1):c.331C>T (p.Arg111Trp) rs150911744 0.00030
NM_001159702.3(FHL1):c.760C>T (p.Arg254Cys) rs367592190 0.00023
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile) rs139402062 0.00017
NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn) rs754308516 0.00011
NM_001159699.2(FHL1):c.408C>T (p.Thr136=) rs755900253 0.00005
NM_001159699.2(FHL1):c.456C>T (p.Ile152=) rs747594885 0.00005
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val) rs146125558 0.00005
NM_001159699.2(FHL1):c.736+596C>T rs746341848 0.00004
NM_001159699.2(FHL1):c.161A>G (p.Asn54Ser) rs886043917 0.00002
NM_001159699.2(FHL1):c.447G>A (p.Lys149=) rs768142579 0.00002
NM_001159699.2(FHL1):c.644G>A (p.Arg215His) rs886043053 0.00002
NM_001159702.3(FHL1):c.796C>T (p.Arg266Trp) rs1449489446 0.00002
NM_001159699.2(FHL1):c.302A>G (p.Asn101Ser) rs774919566 0.00001
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431 0.00001
NM_001159699.2(FHL1):c.861G>T (p.Val287=) rs886043219 0.00001
NM_001159699.2(FHL1):c.88T>C (p.Leu30=) rs1313810606 0.00001
NM_001159699.2(FHL1):c.261C>A (p.Cys87Ter) rs886044238
NM_001159699.2(FHL1):c.356G>T (p.Gly119Val) rs1556638919
NM_001159699.2(FHL1):c.404G>T (p.Gly135Val) rs886042453
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys) rs1556639109
NM_001159699.2(FHL1):c.422A>G (p.Asp141Gly) rs1556639119
NM_001159699.2(FHL1):c.494_496del (p.Tyr165del) rs886044209
NM_001159699.2(FHL1):c.505T>G (p.Cys169Gly) rs122458144
NM_001159699.2(FHL1):c.529C>T (p.His177Tyr) rs1569530490
NM_001159699.2(FHL1):c.534C>G (p.Cys178Trp) rs377693754
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) rs122458141
NM_001159699.2(FHL1):c.737-3del rs368428875
NM_001159699.2(FHL1):c.737-9del rs374867802
NM_001159699.2(FHL1):c.737-9dup rs374867802
NM_001159699.2(FHL1):c.785_793dup (p.Tyr264_Cys265insTyrAspTyr) rs1603273609
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs) rs1603273685
NM_001159702.3(FHL1):c.697A>G (p.Thr233Ala) rs886044371
NM_001159702.3(FHL1):c.745G>A (p.Val249Met) rs373785682
NM_001159702.3(FHL1):c.767C>T (p.Pro256Leu) rs886042893
NM_001159702.3(FHL1):c.767_768delinsTC (p.Pro256Leu) rs886043137

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