ClinVar Miner

List of variants in gene IRF2BP2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_182972.3(IRF2BP2):c.1566G>A (p.Pro522=) rs144158289 0.00031
NM_182972.3(IRF2BP2):c.1311C>T (p.Gly437=) rs376700451 0.00009
GRCh37/hg19 1q42.3(chr1:234742883-234745240)x1
NM_182972.3(IRF2BP2):c.1166T>C (p.Ile389Thr) rs770470592
NM_182972.3(IRF2BP2):c.117C>T (p.Gly39=)
NM_182972.3(IRF2BP2):c.1535G>A (p.Arg512Gln)
NM_182972.3(IRF2BP2):c.1588T>C (p.Cys530Arg)
NM_182972.3(IRF2BP2):c.1621C>T (p.Gln541Ter) rs1672190114
NM_182972.3(IRF2BP2):c.574A>T (p.Met192Leu)
NM_182972.3(IRF2BP2):c.905C>G (p.Pro302Arg) rs1289654852

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