ClinVar Miner

List of variants in gene TAF1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_004606.5(TAF1):c.2786G>A (p.Arg929His) rs1234368315 0.00001
NM_004606.5(TAF1):c.5188G>C (p.Gly1730Arg) rs1056349370 0.00001
NM_004606.5(TAF1):c.5436C>A (p.Asn1812Lys) rs2038653435 0.00001
NM_004606.5(TAF1):c.1082G>A (p.Ser361Asn)
NM_004606.5(TAF1):c.1207T>G (p.Phe403Val) rs2033670961
NM_004606.5(TAF1):c.1330A>G (p.Arg444Gly) rs1555966257
NM_004606.5(TAF1):c.1339A>G (p.Met447Val)
NM_004606.5(TAF1):c.1396T>C (p.Tyr466His)
NM_004606.5(TAF1):c.2119C>T (p.Arg707Trp) rs2148297957
NM_004606.5(TAF1):c.2311G>A (p.Gly771Ser)
NM_004606.5(TAF1):c.2475G>T (p.Arg825Ser)
NM_004606.5(TAF1):c.2723C>T (p.Ser908Phe)
NM_004606.5(TAF1):c.2773G>A (p.Asp925Asn) rs1555971253
NM_004606.5(TAF1):c.2945C>T (p.Pro982Leu)
NM_004606.5(TAF1):c.3833A>T (p.Lys1278Ile) rs2035179111
NM_004606.5(TAF1):c.4312C>T (p.Arg1438Cys) rs1569313767
NM_004606.5(TAF1):c.4387C>G (p.Pro1463Ala)
NM_004606.5(TAF1):c.448A>G (p.Lys150Glu)
NM_004606.5(TAF1):c.4864G>T (p.Ala1622Ser) rs2038207259
NM_004606.5(TAF1):c.4961A>G (p.Asn1654Ser)
NM_004606.5(TAF1):c.5305A>T (p.Asn1769Tyr)
NM_004606.5(TAF1):c.987A>G (p.Ile329Met)

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