ClinVar Miner

List of variants studied for KAT6B-related multiple congenital anomalies syndrome

Included ClinVar conditions (2):
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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_012330.4(KAT6B):c.4835G>A (p.Arg1612His) rs72803461 0.00277
NM_012330.4(KAT6B):c.375C>T (p.Ser125=) rs41314998 0.00269
NM_012330.4(KAT6B):c.2231+9A>G rs201260397 0.00101
NM_012330.4(KAT6B):c.1468C>T (p.Pro490Ser) rs141930257 0.00046
NM_012330.4(KAT6B):c.3729G>C (p.Lys1243Asn) rs550048327 0.00035
NM_012330.4(KAT6B):c.2374-10T>C rs376833457 0.00034
NM_012330.4(KAT6B):c.4633G>A (p.Val1545Ile) rs145158232 0.00033
NM_012330.4(KAT6B):c.4141G>C (p.Asp1381His) rs376231865 0.00031
NM_012330.4(KAT6B):c.4611C>T (p.Ile1537=) rs371945178 0.00024
NM_012330.4(KAT6B):c.1025T>C (p.Ile342Thr) rs182392778 0.00021
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His) rs563033366 0.00021
NM_012330.4(KAT6B):c.1512C>A (p.Ser504Arg) rs769903041 0.00019
NM_012330.4(KAT6B):c.4510G>A (p.Glu1504Lys) rs200393557 0.00011
NM_012330.4(KAT6B):c.5679G>A (p.Pro1893=) rs370977553 0.00011
NM_012330.4(KAT6B):c.3337T>C (p.Leu1113=) rs751986009 0.00010
NM_012330.4(KAT6B):c.3255A>G (p.Glu1085=) rs933289359 0.00009
NM_012330.4(KAT6B):c.3258A>C (p.Glu1086Asp) rs754680177 0.00009
NM_012330.4(KAT6B):c.3264A>G (p.Glu1088=) rs551589427 0.00009
NM_012330.4(KAT6B):c.839G>A (p.Arg280Lys) rs148243411 0.00009
NM_012330.4(KAT6B):c.4776A>G (p.Gln1592=) rs148492740 0.00007
NM_012330.4(KAT6B):c.3957G>T (p.Leu1319Phe) rs150339818 0.00006
NM_012330.4(KAT6B):c.1565C>A (p.Ser522Tyr) rs200852439 0.00005
NM_012330.4(KAT6B):c.5879C>T (p.Thr1960Met) rs147168060 0.00004
NM_012330.4(KAT6B):c.6054A>G (p.Gln2018=) rs1446331653 0.00004
NM_012330.4(KAT6B):c.6153C>T (p.Pro2051=) rs544887456 0.00004
NM_012330.4(KAT6B):c.1654A>G (p.Thr552Ala) rs373962168 0.00001
NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=) rs767983250 0.00001
NM_012330.4(KAT6B):c.1009C>T (p.Arg337Ter)
NM_012330.4(KAT6B):c.1204A>G (p.Thr402Ala)
NM_012330.4(KAT6B):c.136A>G (p.Thr46Ala)
NM_012330.4(KAT6B):c.1485A>G (p.Pro495=)
NM_012330.4(KAT6B):c.1584G>A (p.Val528=)
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.2490A>G (p.Thr830=)
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.2958del (p.Arg986fs)
NM_012330.4(KAT6B):c.3061G>A (p.Glu1021Lys)
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) rs1554843815
NM_012330.4(KAT6B):c.3276GGA[1] (p.Glu1104del)
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met) rs755451488
NM_012330.4(KAT6B):c.3373-1G>A
NM_012330.4(KAT6B):c.3378_3381del (p.Phe1127fs)
NM_012330.4(KAT6B):c.3581del (p.Gln1194fs) rs1564628365
NM_012330.4(KAT6B):c.3665-14G>A
NM_012330.4(KAT6B):c.3665-20G>A
NM_012330.4(KAT6B):c.368G>T (p.Gly123Val)
NM_012330.4(KAT6B):c.3717C>T (p.Pro1239=) rs147746065
NM_012330.4(KAT6B):c.3730T>C (p.Cys1244Arg)
NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs) rs199470472
NM_012330.4(KAT6B):c.392A>G (p.Lys131Arg)
NM_012330.4(KAT6B):c.395_397dup (p.Tyr132_Leu133insHis)
NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4066del (p.Glu1356fs)
NM_012330.4(KAT6B):c.4075del (p.Glu1359fs)
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup) rs375513122
NM_012330.4(KAT6B):c.4109AAG[5] (p.Glu1373dup) rs751483850
NM_012330.4(KAT6B):c.4437C>T (p.Val1479=)
NM_012330.4(KAT6B):c.4453dup (p.Cys1485fs)
NM_012330.4(KAT6B):c.4737C>T (p.Asp1579=)
NM_012330.4(KAT6B):c.4738C>G (p.Gln1580Glu)
NM_012330.4(KAT6B):c.4956C>T (p.Val1652=)
NM_012330.4(KAT6B):c.5041G>A (p.Glu1681Lys) rs1564632292
NM_012330.4(KAT6B):c.5169G>A (p.Gln1723=)
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) rs199470484
NM_012330.4(KAT6B):c.5646del (p.Asn1883fs)
NM_012330.4(KAT6B):c.5646dup (p.Asn1883fs)
NM_012330.4(KAT6B):c.5807C>T (p.Ala1936Val) rs2134253347
NM_012330.4(KAT6B):c.582G>A (p.Ser194=)
NM_012330.4(KAT6B):c.5848_5849del (p.Val1950fs)
NM_012330.4(KAT6B):c.6058C>G (p.Pro2020Ala)
NM_012330.4(KAT6B):c.846+1G>C

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