ClinVar Miner

List of variants in gene FHL1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001159699.2(FHL1):c.612T>C (p.Cys204=) rs752193492 0.00002
NM_001159699.2(FHL1):c.737-12_737-8del rs761074507 0.00002
NM_001159699.2(FHL1):c.551C>T (p.Ala184Val) rs753677369 0.00001
NM_001159699.2(FHL1):c.16_17delinsAC (p.His6Thr)
NM_001159699.2(FHL1):c.190G>A (p.Gly64Ser) rs1467233713
NM_001159699.2(FHL1):c.205-1G>A rs2073859427
NM_001159699.2(FHL1):c.404G>T (p.Gly135Val) rs886042453
NM_001159699.2(FHL1):c.737-13_737-9del rs374867802
NM_001159699.2(FHL1):c.841_844del (p.Val281fs) rs1603273685
NM_001159699.2(FHL1):c.852G>A (p.Gln284=) rs774024150
NM_001159699.2(FHL1):c.888G>T (p.Leu296=) rs1240522766
NM_001159702.3(FHL1):c.-26-9571C>T

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