ClinVar Miner

List of variants reported as uncertain significance for Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.2911C>T (p.Arg971Cys) rs146209687 0.00006
NM_006766.5(KAT6A):c.2791G>A (p.Gly931Arg) rs779101695 0.00004
NM_006766.5(KAT6A):c.2843G>A (p.Arg948Gln) rs200762586 0.00002
NM_006766.5(KAT6A):c.893C>T (p.Thr298Ile) rs199732997 0.00002
NM_006766.5(KAT6A):c.2989C>T (p.Pro997Ser) rs1044282559 0.00001
NM_006766.5(KAT6A):c.5299C>G (p.His1767Asp) rs1821629207 0.00001
NM_006766.5(KAT6A):c.766C>T (p.Arg256Trp) rs1296782375 0.00001
NM_006766.5(KAT6A):c.1040C>T (p.Thr347Met)
NM_006766.5(KAT6A):c.1210A>G (p.Lys404Glu)
NM_006766.5(KAT6A):c.1481A>G (p.Gln494Arg)
NM_006766.5(KAT6A):c.2135G>A (p.Ser712Asn) rs2150863487
NM_006766.5(KAT6A):c.2217C>G (p.Phe739Leu)
NM_006766.5(KAT6A):c.2228A>G (p.Gln743Arg)
NM_006766.5(KAT6A):c.2242C>T (p.Arg748Cys)
NM_006766.5(KAT6A):c.254C>T (p.Pro85Leu) rs2150932891
NM_006766.5(KAT6A):c.265G>A (p.Gly89Arg)
NM_006766.5(KAT6A):c.2696A>G (p.Tyr899Cys) rs745933378
NM_006766.5(KAT6A):c.2947G>T (p.Gly983Cys) rs1822089938
NM_006766.5(KAT6A):c.2980C>T (p.Pro994Ser)
NM_006766.5(KAT6A):c.3061dup (p.Arg1021fs)
NM_006766.5(KAT6A):c.3234A>C (p.Glu1078Asp)
NM_006766.5(KAT6A):c.3264G>T (p.Leu1088Phe) rs978156504
NM_006766.5(KAT6A):c.3316G>A (p.Asp1106Asn)
NM_006766.5(KAT6A):c.3386G>A (p.Arg1129Gln)
NM_006766.5(KAT6A):c.3510A>C (p.Lys1170Asn)
NM_006766.5(KAT6A):c.3629C>A (p.Thr1210Asn)
NM_006766.5(KAT6A):c.3670_3672del (p.Lys1224del)
NM_006766.5(KAT6A):c.3775A>G (p.Asn1259Asp) rs1240578716
NM_006766.5(KAT6A):c.3778A>G (p.Ser1260Gly) rs774544767
NM_006766.5(KAT6A):c.379G>C (p.Gly127Arg)
NM_006766.5(KAT6A):c.4373G>A (p.Ser1458Asn)
NM_006766.5(KAT6A):c.4445C>T (p.Pro1482Leu) rs1821690064
NM_006766.5(KAT6A):c.4528A>G (p.Thr1510Ala)
NM_006766.5(KAT6A):c.4533G>C (p.Gln1511His)
NM_006766.5(KAT6A):c.4598T>C (p.Met1533Thr) rs1821679735
NM_006766.5(KAT6A):c.4625C>T (p.Ser1542Phe)
NM_006766.5(KAT6A):c.4643G>A (p.Ser1548Asn)
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006766.5(KAT6A):c.4707C>A (p.Tyr1569Ter)
NM_006766.5(KAT6A):c.4759T>G (p.Cys1587Gly) rs2150855850
NM_006766.5(KAT6A):c.4768G>C (p.Gly1590Arg)
NM_006766.5(KAT6A):c.4776GTC[1] (p.Ser1597del) rs779024326
NM_006766.5(KAT6A):c.4825A>G (p.Met1609Val)
NM_006766.5(KAT6A):c.4898A>G (p.Lys1633Arg)
NM_006766.5(KAT6A):c.4950G>C (p.Gln1650His)
NM_006766.5(KAT6A):c.4960C>A (p.Pro1654Thr) rs1264564304
NM_006766.5(KAT6A):c.5001_5012dup (p.Ala1669_Pro1672dup) rs2150855509
NM_006766.5(KAT6A):c.5207C>T (p.Pro1736Leu) rs867327550
NM_006766.5(KAT6A):c.5287A>G (p.Ile1763Val) rs1821630087
NM_006766.5(KAT6A):c.5548C>T (p.Pro1850Ser)
NM_006766.5(KAT6A):c.5560C>T (p.His1854Tyr) rs1587706129
NM_006766.5(KAT6A):c.5575T>A (p.Ser1859Thr)
NM_006766.5(KAT6A):c.5705A>G (p.Asn1902Ser)
NM_006766.5(KAT6A):c.5924A>G (p.Asn1975Ser)
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr)
NM_006766.5(KAT6A):c.5961G>A (p.Met1987Ile)
NM_006766.5(KAT6A):c.710-3T>C
NM_006766.5(KAT6A):c.752G>A (p.Arg251Gln) rs1824373842
NM_006766.5(KAT6A):c.806G>A (p.Arg269Gln)
NM_006766.5(KAT6A):c.824C>T (p.Ala275Val) rs1220943324
NM_006766.5(KAT6A):c.830A>G (p.Asn277Ser)
NM_006766.5(KAT6A):c.895C>T (p.Arg299Cys)

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