ClinVar Miner

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

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_145059.3(FCSK):c.484+18T>C rs56366805 0.00571
NM_145059.3(FCSK):c.2314A>G (p.Thr772Ala) rs149607813 0.00441
NM_145059.3(FCSK):c.2701C>T (p.Arg901Trp) rs17881635 0.00435
NM_145059.3(FCSK):c.804T>A (p.Ile268=) rs78440411 0.00335
NM_145059.3(FCSK):c.436G>A (p.Val146Met) rs17881323 0.00261
NM_145059.3(FCSK):c.3225C>T (p.Thr1075=) rs199905558 0.00249
NM_145059.3(FCSK):c.683T>A (p.Phe228Tyr) rs201690930 0.00237
NM_145059.3(FCSK):c.1674G>A (p.Ala558=) rs771305367 0.00044
NM_145059.3(FCSK):c.2964G>A (p.Ser988=) rs201537001 0.00040
NM_145059.3(FCSK):c.1350G>A (p.Gly450=) rs200800448 0.00038
NM_145059.3(FCSK):c.2741C>T (p.Thr914Met) rs200944357 0.00003
NM_145059.3(FCSK):c.1044C>G (p.Ala348=)
NM_145059.3(FCSK):c.1337G>A (p.Trp446Ter)
NM_145059.3(FCSK):c.1893C>T (p.Asn631=)
NM_145059.3(FCSK):c.2235C>A (p.Arg745=)
NM_145059.3(FCSK):c.2572G>A (p.Ala858Thr) rs17884050
NM_145059.3(FCSK):c.349G>A (p.Glu117Lys)
NM_145059.3(FCSK):c.485-2A>G
NM_145059.3(FCSK):c.663+5G>A

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