ClinVar Miner

List of variants in gene DEAF1 reported as likely pathogenic for not provided

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_021008.4(DEAF1):c.553C>T (p.Gln185Ter) rs1860672898 0.00001
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln) rs1415420832 0.00001
NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly) rs1064795812 0.00001
NC_000011.9:g.(?_674516)_(674803_?)dup
NC_000011.9:g.(?_678674)_(688480_?)dup
NM_021008.4(DEAF1):c.1127-2A>G
NM_021008.4(DEAF1):c.1204C>T (p.Gln402Ter) rs2133377407
NM_021008.4(DEAF1):c.136G>T (p.Glu46Ter)
NM_021008.4(DEAF1):c.517+1G>T
NM_021008.4(DEAF1):c.661T>C (p.Ser221Pro) rs1860668289
NM_021008.4(DEAF1):c.662C>T (p.Ser221Leu)
NM_021008.4(DEAF1):c.677G>A (p.Arg226Gln)
NM_021008.4(DEAF1):c.700T>G (p.Trp234Gly) rs1057524157
NM_021008.4(DEAF1):c.706A>G (p.Ser236Gly)
NM_021008.4(DEAF1):c.718T>A (p.Phe240Ile) rs2133402518
NM_021008.4(DEAF1):c.721G>A (p.Glu241Lys) rs1860618696
NM_021008.4(DEAF1):c.737G>A (p.Arg246Lys)
NM_021008.4(DEAF1):c.753C>A (p.Asp251Glu) rs1860617657
NM_021008.4(DEAF1):c.759A>T (p.Lys253Asn)
NM_021008.4(DEAF1):c.759_763del (p.Arg254fs)
NM_021008.4(DEAF1):c.767T>A (p.Ile256Asn) rs1064796407
NM_021008.4(DEAF1):c.781C>T (p.Arg261Ter) rs778326610
NM_021008.4(DEAF1):c.851G>A (p.Cys284Tyr) rs1590013404
NM_021008.4(DEAF1):c.870+3_870+6del
NM_021008.4(DEAF1):c.997+1G>C
NM_021008.4(DEAF1):c.997+5G>A
NM_021008.4(DEAF1):c.998-2A>G

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