ClinVar Miner

List of variants in gene SETD1A reported as uncertain significance for Inborn genetic diseases

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_014712.3(SETD1A):c.104C>T (p.Pro35Leu)
NM_014712.3(SETD1A):c.1240C>A (p.Pro414Thr)
NM_014712.3(SETD1A):c.1381C>A (p.Arg461Ser)
NM_014712.3(SETD1A):c.1381C>T (p.Arg461Cys)
NM_014712.3(SETD1A):c.1429A>G (p.Asn477Asp)
NM_014712.3(SETD1A):c.163A>G (p.Ile55Val)
NM_014712.3(SETD1A):c.1681G>C (p.Ala561Pro)
NM_014712.3(SETD1A):c.1787C>G (p.Pro596Arg) rs139187973
NM_014712.3(SETD1A):c.178C>A (p.Leu60Ile)
NM_014712.3(SETD1A):c.1796C>T (p.Thr599Met) rs759133316
NM_014712.3(SETD1A):c.1879C>G (p.Pro627Ala)
NM_014712.3(SETD1A):c.190C>T (p.Arg64Cys)
NM_014712.3(SETD1A):c.205T>C (p.Ser69Pro)
NM_014712.3(SETD1A):c.2081G>A (p.Arg694Gln)
NM_014712.3(SETD1A):c.2134G>A (p.Gly712Arg)
NM_014712.3(SETD1A):c.220T>G (p.Phe74Val)
NM_014712.3(SETD1A):c.224C>T (p.Ser75Phe)
NM_014712.3(SETD1A):c.246+4A>G
NM_014712.3(SETD1A):c.2572C>G (p.Pro858Ala)
NM_014712.3(SETD1A):c.260A>G (p.Tyr87Cys)
NM_014712.3(SETD1A):c.2612G>C (p.Gly871Ala)
NM_014712.3(SETD1A):c.2614A>T (p.Thr872Ser)
NM_014712.3(SETD1A):c.2639T>A (p.Phe880Tyr)
NM_014712.3(SETD1A):c.2946G>T (p.Glu982Asp)
NM_014712.3(SETD1A):c.3047A>G (p.Lys1016Arg)
NM_014712.3(SETD1A):c.3059A>G (p.Tyr1020Cys)
NM_014712.3(SETD1A):c.3143C>T (p.Ser1048Leu)
NM_014712.3(SETD1A):c.3199G>A (p.Glu1067Lys)
NM_014712.3(SETD1A):c.3201A>C (p.Glu1067Asp)
NM_014712.3(SETD1A):c.3353C>G (p.Pro1118Arg)
NM_014712.3(SETD1A):c.3380C>G (p.Pro1127Arg)
NM_014712.3(SETD1A):c.3395G>A (p.Arg1132His)
NM_014712.3(SETD1A):c.3400C>T (p.Pro1134Ser)
NM_014712.3(SETD1A):c.3421C>T (p.Pro1141Ser)
NM_014712.3(SETD1A):c.3434C>A (p.Pro1145Gln)
NM_014712.3(SETD1A):c.3494G>A (p.Arg1165Gln)
NM_014712.3(SETD1A):c.3602G>A (p.Arg1201Gln)
NM_014712.3(SETD1A):c.3690_3707del (p.Ser1231_Arg1236del)
NM_014712.3(SETD1A):c.3799G>A (p.Gly1267Arg)
NM_014712.3(SETD1A):c.3859G>A (p.Glu1287Lys)
NM_014712.3(SETD1A):c.3862C>T (p.Arg1288Cys)
NM_014712.3(SETD1A):c.3926C>T (p.Thr1309Met)
NM_014712.3(SETD1A):c.3973G>A (p.Ala1325Thr)
NM_014712.3(SETD1A):c.3976G>A (p.Ala1326Thr)
NM_014712.3(SETD1A):c.4049A>C (p.Lys1350Thr)
NM_014712.3(SETD1A):c.4073G>A (p.Arg1358Gln)
NM_014712.3(SETD1A):c.4171A>G (p.Arg1391Gly)
NM_014712.3(SETD1A):c.4174C>T (p.Arg1392Cys)
NM_014712.3(SETD1A):c.4205G>C (p.Arg1402Pro)
NM_014712.3(SETD1A):c.4211C>T (p.Pro1404Leu)
NM_014712.3(SETD1A):c.42C>G (p.Ser14Arg)
NM_014712.3(SETD1A):c.4525A>C (p.Lys1509Gln)
NM_014712.3(SETD1A):c.4570G>A (p.Val1524Met)
NM_014712.3(SETD1A):c.4716del (p.Phe1572fs) rs1555491587
NM_014712.3(SETD1A):c.4812+4A>C
NM_014712.3(SETD1A):c.4960T>C (p.Tyr1654His)
NM_014712.3(SETD1A):c.643G>A (p.Glu215Lys)
NM_014712.3(SETD1A):c.667G>A (p.Asp223Asn)
NM_014712.3(SETD1A):c.707C>T (p.Thr236Ile)
NM_014712.3(SETD1A):c.718G>A (p.Gly240Ser)
NM_014712.3(SETD1A):c.758G>A (p.Arg253Gln)
NM_014712.3(SETD1A):c.811A>C (p.Thr271Pro)
NM_014712.3(SETD1A):c.862T>C (p.Ser288Pro)

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