ClinVar Miner

List of variants in gene SMARCE1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter) rs62622817 0.00398
NM_003079.5(SMARCE1):c.369+12G>T rs58739414 0.00232
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp) rs142193069 0.00143
NM_003079.5(SMARCE1):c.351C>T (p.Asn117=) rs149613910 0.00041
NM_003079.5(SMARCE1):c.1089T>C (p.Thr363=) rs767262463 0.00004
NM_003079.5(SMARCE1):c.168T>C (p.Gly56=) rs773059312 0.00003
NM_003079.5(SMARCE1):c.822C>T (p.Cys274=) rs769584665 0.00002
NM_003079.5(SMARCE1):c.516C>T (p.Ser172=) rs771523560 0.00001
NM_003079.5(SMARCE1):c.-45-8dup
NM_003079.5(SMARCE1):c.-6T>C rs2144015625
NM_003079.5(SMARCE1):c.1018A>T (p.Met340Leu)
NM_003079.5(SMARCE1):c.1033A>C (p.Thr345Pro) rs1597741316
NM_003079.5(SMARCE1):c.156+27C>T
NM_003079.5(SMARCE1):c.267T>G (p.Pro89=)
NM_003079.5(SMARCE1):c.274A>C (p.Lys92Gln) rs2143997424
NM_003079.5(SMARCE1):c.314G>A (p.Arg105Gln) rs2037146907
NM_003079.5(SMARCE1):c.324T>C (p.Thr108=) rs1597746306
NM_003079.5(SMARCE1):c.483A>G (p.Gln161=) rs1282104211
NM_003079.5(SMARCE1):c.48A>C (p.Ala16=)
NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter) rs397509405
NM_003079.5(SMARCE1):c.869C>T (p.Ala290Val) rs758923998

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