ClinVar Miner

List of variants in gene DEAF1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_021008.4(DEAF1):c.825C>T (p.His275=) rs144498322 0.00310
NM_021008.4(DEAF1):c.727A>G (p.Met243Val) rs71469813 0.00284
NM_021008.4(DEAF1):c.162G>C (p.Ser54=) rs141389829 0.00133
NM_021008.4(DEAF1):c.231C>T (p.Asp77=) rs371538775 0.00130
NM_021008.4(DEAF1):c.1640C>G (p.Thr547Ser) rs111947578 0.00046
NM_021008.4(DEAF1):c.855C>T (p.Cys285=) rs373861624 0.00036
NM_021008.4(DEAF1):c.1518C>T (p.Asn506=) rs765778708 0.00005
NM_021008.4(DEAF1):c.1620C>T (p.Cys540=) rs145256931 0.00005
NM_021008.4(DEAF1):c.939C>T (p.Pro313=) rs377002477 0.00004
NM_021008.4(DEAF1):c.411C>T (p.Ile137=) rs373131091 0.00003
NM_021008.4(DEAF1):c.216G>A (p.Glu72=) rs12799262 0.00001
NM_021008.4(DEAF1):c.237C>T (p.Gly79=)
NM_021008.4(DEAF1):c.51_92del (p.Val19_Ala32del) rs758496577
NM_021008.4(DEAF1):c.60_86del (p.Val25_Ala33del) rs769664625
NM_021008.4(DEAF1):c.72_95del (p.Val25_Ala32del) rs752994574
NM_021008.4(DEAF1):c.81G>C (p.Ala27=)

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