ClinVar Miner

List of variants in gene FHL1 reported as benign for Emery-Dreifuss muscular dystrophy

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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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.204+5C>T rs182106777 0.00542
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.331C>T (p.Arg111Trp) rs150911744 0.00030
NM_001159699.2(FHL1):c.737-9T>C rs914754937 0.00022
NM_001159699.2(FHL1):c.380-16T>C rs772665517 0.00004
NM_001159699.2(FHL1):c.737-5C>A rs771803774 0.00004
NM_001159699.2(FHL1):c.737-3del rs368428875
NM_001159699.2(FHL1):c.737-3dup
NM_001159699.2(FHL1):c.737-9del rs374867802
NM_001159699.2(FHL1):c.737-9dup rs374867802

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