ClinVar Miner

List of variants in gene C2orf49, FHL2 studied for Cardiomyopathy

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001318895.3(FHL2):c.530G>A (p.Arg177Gln) rs113188481 0.01458
NM_001318895.3(FHL2):c.678C>T (p.Asn226=) rs137869171 0.00794
NM_001318895.3(FHL2):c.689-10C>G rs115841332 0.00456
NM_001318895.3(FHL2):c.321C>T (p.Thr107=) rs139644436 0.00380
NM_001318895.3(FHL2):c.207G>A (p.Ser69=) rs138189036 0.00033
NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys) rs140148322 0.00032
NM_001318895.3(FHL2):c.174C>T (p.Asp58=) rs141208906 0.00020
NM_001318895.3(FHL2):c.725G>A (p.Arg242Gln) rs188279857 0.00005
NM_001318895.3(FHL2):c.332-6T>A rs754744445 0.00002
NM_001318895.3(FHL2):c.595C>A (p.Arg199Ser) rs373259092

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