ClinVar Miner

List of variants reported as uncertain significance by Genome Medicine, Institute for Basic Research in Developmental Disabilities

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004606.5(TAF1):c.1237G>A (p.Asp413Asn) rs367907623 0.00009
NM_004606.5(TAF1):c.4130G>A (p.Arg1377Gln) rs748747814 0.00001
NM_018052.5(VAC14):c.2005G>T (p.Val669Leu) rs1363536856 0.00001
NM_004606.5(TAF1):c.2120G>C (p.Arg707Pro) rs1602490113
NM_004606.5(TAF1):c.2557T>G (p.Phe853Val) rs1602504701
NM_004606.5(TAF1):c.2773G>A (p.Asp925Asn) rs1555971253
NM_004606.5(TAF1):c.3992T>A (p.Ile1331Asn) rs1602549992
NM_004606.5(TAF1):c.4382A>G (p.Asn1461Ser) rs1602572645
NM_004606.5(TAF1):c.4666A>G (p.Lys1556Glu) rs1602627327
NM_004606.5(TAF1):c.553A>G (p.Ser185Gly) rs1602459601
NM_004606.5(TAF1):c.892G>A (p.Ala298Thr) rs1602463196
NM_013275.6(ANKRD11):c.1756G>A (p.Val586Met) rs1348447346

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