ClinVar Miner

List of variants in gene combination AP4M1, TAF6 reported by Breakthrough Genomics, Breakthrough Genomics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_139315.3(TAF6):c.1285-140T>C rs4134923 0.58487
NM_004722.4(AP4M1):c.*291A>T rs13309 0.55338
NM_139315.3(TAF6):c.1722C>T (p.Thr574=) rs145939245 0.00509
NM_004722.4(AP4M1):c.*387C>T rs146348021 0.00325
NM_139315.3(TAF6):c.1904C>T (p.Pro635Leu) rs79147701 0.00121
NM_139315.3(TAF6):c.1770C>T (p.Thr590=) rs145591068 0.00050
NM_139315.3(TAF6):c.1710C>T (p.Pro570=) rs138356641 0.00006
NM_004722.4(AP4M1):c.*322A>G rs1050542

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