ClinVar Miner

List of variants in gene SIN3A reported as uncertain significance for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Included ClinVar conditions (406):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001145358.2(SIN3A):c.2783G>A (p.Arg928Gln) rs367989965 0.00003
NM_001145358.2(SIN3A):c.286G>A (p.Gly96Ser) rs761104318 0.00001
NM_001145358.2(SIN3A):c.3614G>A (p.Arg1205His) rs747873220 0.00001
NM_001145358.2(SIN3A):c.1051C>T (p.Pro351Ser) rs2073605317
NM_001145358.2(SIN3A):c.1250C>T (p.Pro417Leu)
NM_001145358.2(SIN3A):c.1373A>G (p.His458Arg) rs768415150
NM_001145358.2(SIN3A):c.1430C>T (p.Ala477Val)
NM_001145358.2(SIN3A):c.1715G>T (p.Gly572Val)
NM_001145358.2(SIN3A):c.2063C>T (p.Pro688Leu) rs2141438345
NM_001145358.2(SIN3A):c.212C>T (p.Ser71Phe) rs2073861256
NM_001145358.2(SIN3A):c.2197G>C (p.Gly733Arg) rs1567338837
NM_001145358.2(SIN3A):c.2310T>C (p.Gly770=)
NM_001145358.2(SIN3A):c.2485G>C (p.Gly829Arg) rs2073227641
NM_001145358.2(SIN3A):c.2498A>T (p.Asp833Val)
NM_001145358.2(SIN3A):c.2512G>A (p.Glu838Lys)
NM_001145358.2(SIN3A):c.2842A>G (p.Lys948Glu) rs2073219406
NM_001145358.2(SIN3A):c.2915G>T (p.Gly972Val)
NM_001145358.2(SIN3A):c.3200T>C (p.Met1067Thr)
NM_001145358.2(SIN3A):c.3346C>T (p.Arg1116Cys) rs760200525
NM_001145358.2(SIN3A):c.3359C>G (p.Ala1120Gly) rs2141382956
NM_001145358.2(SIN3A):c.3591G>A (p.Gln1197=) rs2141368447
NM_001145358.2(SIN3A):c.3620A>G (p.His1207Arg)
NM_001145358.2(SIN3A):c.3640G>A (p.Val1214Ile) rs750796375
NM_001145358.2(SIN3A):c.3653C>G (p.Thr1218Ser)
NM_001145358.2(SIN3A):c.619C>G (p.Gln207Glu)
NM_001145358.2(SIN3A):c.776A>C (p.His259Pro) rs1180165033
NM_001145358.2(SIN3A):c.92A>G (p.His31Arg)

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