ClinVar Miner

List of variants reported as uncertain significance for Intellectual disability, autosomal dominant 22

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_205768.3(ZBTB18):c.896A>G (p.Tyr299Cys) rs528142333 0.00008
NM_205768.3(ZBTB18):c.208G>A (p.Asp70Asn) rs373838988 0.00001
NM_205768.3(ZBTB18):c.901A>G (p.Met301Val) rs1297818384 0.00001
NM_205768.3(ZBTB18):c.1009C>T (p.Arg337Trp) rs1698422829
NM_205768.3(ZBTB18):c.1054G>A (p.Glu352Lys) rs1698424563
NM_205768.3(ZBTB18):c.1268T>C (p.Leu423Pro) rs2148557490
NM_205768.3(ZBTB18):c.1307G>T (p.Arg436Leu) rs1572531765
NM_205768.3(ZBTB18):c.1325C>T (p.Ser442Leu)
NM_205768.3(ZBTB18):c.1347C>G (p.Cys449Trp) rs1698436058
NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly) rs1135401770
NM_205768.3(ZBTB18):c.1454C>T (p.Thr485Met) rs2527561619
NM_205768.3(ZBTB18):c.1487A>G (p.Lys496Arg) rs2148557789
NM_205768.3(ZBTB18):c.247G>T (p.Ala83Ser)
NM_205768.3(ZBTB18):c.316G>A (p.Val106Met)
NM_205768.3(ZBTB18):c.343A>G (p.Met115Val) rs2527555835
NM_205768.3(ZBTB18):c.446A>G (p.Lys149Arg) rs1698407726
NM_205768.3(ZBTB18):c.602C>T (p.Ala201Val)
NM_205768.3(ZBTB18):c.80G>C (p.Arg27Thr) rs2527554683
NM_205768.3(ZBTB18):c.859G>A (p.Ala287Thr) rs1362432147
NM_205768.3(ZBTB18):c.962C>T (p.Ala321Val) rs1698421019

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