ClinVar Miner

List of variants in gene DEAF1 reported as uncertain significance by Ambry Genetics

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_021008.4(DEAF1):c.1244A>G (p.His415Arg) rs192026177 0.00006
NM_021008.4(DEAF1):c.244G>A (p.Ala82Thr) rs751324313 0.00002
NM_021008.4(DEAF1):c.121G>T (p.Val41Leu) rs778141911 0.00001
NM_021008.4(DEAF1):c.1525C>T (p.Arg509Trp) rs368021470 0.00001
NM_021008.4(DEAF1):c.1609C>T (p.Gln537Ter) rs759498621 0.00001
NM_021008.4(DEAF1):c.688C>G (p.Gln230Glu) rs1365792138 0.00001
NM_021008.4(DEAF1):c.108G>T (p.Glu36Asp) rs868034883
NM_021008.4(DEAF1):c.13G>A (p.Asp5Asn)
NM_021008.4(DEAF1):c.185G>T (p.Arg62Leu)
NM_021008.4(DEAF1):c.280G>A (p.Ala94Thr)
NM_021008.4(DEAF1):c.32T>A (p.Leu11Gln) rs1440593971
NM_021008.4(DEAF1):c.392G>A (p.Gly131Asp)
NM_021008.4(DEAF1):c.586C>T (p.Pro196Ser) rs1860671603
NM_021008.4(DEAF1):c.598G>A (p.Asp200Asn)
NM_021008.4(DEAF1):c.598G>C (p.Asp200His)
NM_021008.4(DEAF1):c.61G>A (p.Ala21Thr)
NM_021008.4(DEAF1):c.623G>C (p.Arg208Pro)
NM_021008.4(DEAF1):c.63_83del (p.Val25_Ala31del)
NM_021008.4(DEAF1):c.723G>C (p.Glu241Asp)
NM_021008.4(DEAF1):c.74T>G (p.Val25Gly) rs1861053325
NM_021008.4(DEAF1):c.76G>C (p.Ala26Pro)
NM_021008.4(DEAF1):c.80C>A (p.Ala27Glu) rs1400909690
NM_021008.4(DEAF1):c.80C>G (p.Ala27Gly)
NM_021008.4(DEAF1):c.82G>C (p.Ala28Pro)
NM_021008.4(DEAF1):c.890T>C (p.Phe297Ser) rs1390761338
NM_021008.4(DEAF1):c.994A>G (p.Thr332Ala)

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