ClinVar Miner

List of variants reported as uncertain significance for multiple congenital anomalies/dysmorphic syndrome by PreventionGenetics, part of Exact Sciences

Included ClinVar conditions (871):
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_030632.3(ASXL3):c.2342C>T (p.Pro781Leu) rs201776257 0.00029
NM_012330.4(KAT6B):c.4510G>A (p.Glu1504Lys) rs200393557 0.00011
NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu) rs760635077 0.00001
NM_001379403.1(WDR26):c.1756G>T (p.Val586Leu)
NM_001379403.1(WDR26):c.1784G>A (p.Ser595Asn)
NM_001379403.1(WDR26):c.2129C>T (p.Thr710Ile)
NM_001379403.1(WDR26):c.2246_2249delinsTTTGTATAATGTT (p.His749_Gln750delinsLeuCysIleMetLeu)
NM_001379403.1(WDR26):c.351_353dup (p.Gly125_Gln126insGly)
NM_001379403.1(WDR26):c.428C>T (p.Ser143Phe)
NM_003737.4(DCHS1):c.5851C>A (p.Arg1951Ser)
NM_012330.4(KAT6B):c.1204A>G (p.Thr402Ala)
NM_012330.4(KAT6B):c.136A>G (p.Thr46Ala)
NM_012330.4(KAT6B):c.1637G>A (p.Gly546Glu)
NM_012330.4(KAT6B):c.1800CTC[3] (p.Ser605del) rs1564600378
NM_012330.4(KAT6B):c.1815C>G (p.Ser605Arg)
NM_012330.4(KAT6B):c.2008A>G (p.Ile670Val)
NM_012330.4(KAT6B):c.2065A>G (p.Thr689Ala)
NM_012330.4(KAT6B):c.2413T>C (p.Cys805Arg)
NM_012330.4(KAT6B):c.2557T>C (p.Tyr853His)
NM_012330.4(KAT6B):c.2657A>G (p.Gln886Arg)
NM_012330.4(KAT6B):c.2666C>A (p.Ser889Tyr)
NM_012330.4(KAT6B):c.2861G>A (p.Arg954Lys)
NM_012330.4(KAT6B):c.3061G>A (p.Glu1021Lys)
NM_012330.4(KAT6B):c.368G>T (p.Gly123Val)
NM_012330.4(KAT6B):c.392A>G (p.Lys131Arg)
NM_012330.4(KAT6B):c.395_397dup (p.Tyr132_Leu133insHis)
NM_012330.4(KAT6B):c.4738C>G (p.Gln1580Glu)
NM_012330.4(KAT6B):c.5807C>T (p.Ala1936Val) rs2134253347
NM_012330.4(KAT6B):c.6058C>G (p.Pro2020Ala)
NM_012330.4(KAT6B):c.846+1G>C
NM_014233.4(UBTF):c.1989C>G (p.Asn663Lys)
NM_014233.4(UBTF):c.2003G>T (p.Arg668Leu)
NM_030632.3(ASXL3):c.137+9017_137+9018del
NM_030632.3(ASXL3):c.1419A>G (p.Ile473Met)
NM_030632.3(ASXL3):c.2075C>A (p.Ala692Glu)
NM_030632.3(ASXL3):c.2231C>G (p.Ser744Cys)
NM_030632.3(ASXL3):c.3382C>T (p.Arg1128Trp)
NM_030632.3(ASXL3):c.4717A>G (p.Thr1573Ala)
NM_030632.3(ASXL3):c.5608C>T (p.His1870Tyr)
NM_030632.3(ASXL3):c.5894G>C (p.Arg1965Thr)
NM_030632.3(ASXL3):c.6056C>T (p.Pro2019Leu)
NM_030632.3(ASXL3):c.6131C>T (p.Pro2044Leu)
NM_030632.3(ASXL3):c.6221G>C (p.Gly2074Ala)
NM_030632.3(ASXL3):c.6250C>A (p.Leu2084Ile)
NM_030632.3(ASXL3):c.6282T>G (p.Cys2094Trp)

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