ClinVar Miner

List of variants in gene KAT6A reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.1603C>T (p.Pro535Ser) rs753999434 0.00004
NM_006766.5(KAT6A):c.5585C>T (p.Ala1862Val) rs759267222 0.00004
NM_006766.5(KAT6A):c.502C>T (p.Arg168Trp) rs369777293 0.00003
NM_006766.5(KAT6A):c.5339A>G (p.Tyr1780Cys) rs61753681 0.00003
NM_006766.5(KAT6A):c.3989A>G (p.Lys1330Arg) rs746406926 0.00002
NM_006766.5(KAT6A):c.458G>A (p.Arg153His) rs770241643 0.00001
NM_006766.5(KAT6A):c.4804A>G (p.Ser1602Gly) rs369072402 0.00001
NM_006766.5(KAT6A):c.523A>G (p.Asn175Asp) rs1237996435 0.00001
NM_006766.5(KAT6A):c.5666G>A (p.Arg1889His) rs1342950357 0.00001
NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly) rs900174205 0.00001
NM_006766.5(KAT6A):c.5809C>T (p.His1937Tyr) rs1821595441 0.00001
NM_006766.5(KAT6A):c.-2C>T rs750971344
NM_006766.5(KAT6A):c.1102A>G (p.Ile368Val)
NM_006766.5(KAT6A):c.1115G>T (p.Ser372Ile)
NM_006766.5(KAT6A):c.1139AAG[1] (p.Glu381del)
NM_006766.5(KAT6A):c.1212G>C (p.Lys404Asn) rs1824096489
NM_006766.5(KAT6A):c.1228A>G (p.Ile410Val)
NM_006766.5(KAT6A):c.1433C>T (p.Thr478Ile) rs1554688023
NM_006766.5(KAT6A):c.1445T>G (p.Met482Arg) rs138707191
NM_006766.5(KAT6A):c.1453T>C (p.Phe485Leu)
NM_006766.5(KAT6A):c.1550_1555dup (p.Glu518_Ile519insAsnGlu)
NM_006766.5(KAT6A):c.1764T>G (p.Ile588Met)
NM_006766.5(KAT6A):c.1903G>A (p.Glu635Lys)
NM_006766.5(KAT6A):c.2004G>C (p.Leu668Phe) rs2150863583
NM_006766.5(KAT6A):c.2008T>C (p.Ser670Pro) rs2150863577
NM_006766.5(KAT6A):c.2021G>A (p.Gly674Asp)
NM_006766.5(KAT6A):c.2140AAG[1] (p.Lys715del) rs1554682073
NM_006766.5(KAT6A):c.2170C>T (p.Pro724Ser)
NM_006766.5(KAT6A):c.2258T>C (p.Ile753Thr)
NM_006766.5(KAT6A):c.2266C>T (p.His756Tyr)
NM_006766.5(KAT6A):c.2272G>A (p.Ala758Thr)
NM_006766.5(KAT6A):c.2366A>G (p.Glu789Gly) rs1017972143
NM_006766.5(KAT6A):c.2422G>A (p.Glu808Lys) rs2150862750
NM_006766.5(KAT6A):c.247C>T (p.Pro83Ser) rs1057518385
NM_006766.5(KAT6A):c.248C>G (p.Pro83Arg) rs2150932905
NM_006766.5(KAT6A):c.2496A>G (p.Glu832=) rs2150861827
NM_006766.5(KAT6A):c.2498A>G (p.Lys833Arg) rs1822125326
NM_006766.5(KAT6A):c.250A>G (p.Lys84Glu) rs1224203245
NM_006766.5(KAT6A):c.2806C>A (p.Pro936Thr) rs367785766
NM_006766.5(KAT6A):c.2809A>G (p.Lys937Glu)
NM_006766.5(KAT6A):c.2896A>G (p.Ser966Gly)
NM_006766.5(KAT6A):c.3032A>C (p.Lys1011Thr) rs1822080060
NM_006766.5(KAT6A):c.304C>G (p.Leu102Val) rs1164383666
NM_006766.5(KAT6A):c.3065G>C (p.Arg1022Thr)
NM_006766.5(KAT6A):c.3187C>T (p.Pro1063Ser) rs1821908148
NM_006766.5(KAT6A):c.3327A>T (p.Glu1109Asp)
NM_006766.5(KAT6A):c.3614A>G (p.Gln1205Arg)
NM_006766.5(KAT6A):c.3670_3675del (p.Lys1224_Glu1225del) rs1821752448
NM_006766.5(KAT6A):c.3781C>T (p.Pro1261Ser)
NM_006766.5(KAT6A):c.3830_3831insTT (p.Arg1278fs) rs786200955
NM_006766.5(KAT6A):c.406G>A (p.Gly136Arg) rs1471098185
NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter) rs138944476
NM_006766.5(KAT6A):c.4138C>T (p.His1380Tyr)
NM_006766.5(KAT6A):c.4139A>G (p.His1380Arg)
NM_006766.5(KAT6A):c.4233GGA[1] (p.Glu1414del)
NM_006766.5(KAT6A):c.4292dup (p.Leu1431fs) rs786200956
NM_006766.5(KAT6A):c.4342G>A (p.Glu1448Lys)
NM_006766.5(KAT6A):c.4370A>G (p.Gln1457Arg)
NM_006766.5(KAT6A):c.4396C>T (p.Pro1466Ser)
NM_006766.5(KAT6A):c.4444C>T (p.Pro1482Ser)
NM_006766.5(KAT6A):c.451A>G (p.Ile151Val)
NM_006766.5(KAT6A):c.4529C>T (p.Thr1510Ile) rs1281540872
NM_006766.5(KAT6A):c.4571T>C (p.Met1524Thr)
NM_006766.5(KAT6A):c.4592C>G (p.Pro1531Arg)
NM_006766.5(KAT6A):c.4594A>T (p.Met1532Leu) rs1476341397
NM_006766.5(KAT6A):c.4658T>C (p.Leu1553Pro)
NM_006766.5(KAT6A):c.4708G>A (p.Asp1570Asn)
NM_006766.5(KAT6A):c.4752G>C (p.Gln1584His) rs2150855858
NM_006766.5(KAT6A):c.4837_4854dup (p.Gly1613_Met1618dup) rs1821666176
NM_006766.5(KAT6A):c.4859A>G (p.Gln1620Arg)
NM_006766.5(KAT6A):c.4882G>A (p.Ala1628Thr)
NM_006766.5(KAT6A):c.5075C>T (p.Pro1692Leu)
NM_006766.5(KAT6A):c.5135C>T (p.Thr1712Ile) rs2150855310
NM_006766.5(KAT6A):c.5195A>G (p.Tyr1732Cys)
NM_006766.5(KAT6A):c.5210G>A (p.Gly1737Glu)
NM_006766.5(KAT6A):c.5234C>G (p.Ser1745Cys)
NM_006766.5(KAT6A):c.524A>T (p.Asn175Ile)
NM_006766.5(KAT6A):c.5366C>G (p.Thr1789Arg) rs1488170324
NM_006766.5(KAT6A):c.5449G>A (p.Ala1817Thr)
NM_006766.5(KAT6A):c.5554A>G (p.Lys1852Glu)
NM_006766.5(KAT6A):c.5570T>C (p.Ile1857Thr)
NM_006766.5(KAT6A):c.557C>G (p.Ser186Cys)
NM_006766.5(KAT6A):c.5594C>T (p.Pro1865Leu) rs2150854866
NM_006766.5(KAT6A):c.5629C>T (p.Arg1877Cys)
NM_006766.5(KAT6A):c.5693A>G (p.Asn1898Ser)
NM_006766.5(KAT6A):c.5696T>C (p.Met1899Thr)
NM_006766.5(KAT6A):c.5701G>C (p.Val1901Leu)
NM_006766.5(KAT6A):c.571G>T (p.Val191Leu) rs1057523324
NM_006766.5(KAT6A):c.5764A>G (p.Met1922Val)
NM_006766.5(KAT6A):c.5788C>T (p.Pro1930Ser)
NM_006766.5(KAT6A):c.5817C>A (p.Asn1939Lys) rs2150854586
NM_006766.5(KAT6A):c.5819C>T (p.Pro1940Leu)
NM_006766.5(KAT6A):c.5878A>C (p.Ser1960Arg) rs1057523241
NM_006766.5(KAT6A):c.5904G>A (p.Met1968Ile)
NM_006766.5(KAT6A):c.5966C>G (p.Ala1989Gly) rs2150854430
NM_006766.5(KAT6A):c.5974G>C (p.Val1992Leu) rs1050612463
NM_006766.5(KAT6A):c.638T>A (p.Leu213His) rs2150893468
NM_006766.5(KAT6A):c.68A>G (p.Gln23Arg) rs2150932970
NM_006766.5(KAT6A):c.745A>G (p.Thr249Ala)
NM_006766.5(KAT6A):c.758A>G (p.Lys253Arg)
NM_006766.5(KAT6A):c.799T>C (p.Ser267Pro)
NM_006766.5(KAT6A):c.824C>T (p.Ala275Val) rs1220943324
NM_006766.5(KAT6A):c.871G>A (p.Glu291Lys)
NM_006766.5(KAT6A):c.971C>A (p.Ala324Glu)
NM_006766.5(KAT6A):c.985C>T (p.Arg329Trp)

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