ClinVar Miner

List of variants in gene SIN3A studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Included ClinVar conditions (406):
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Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_001145358.2(SIN3A):c.3592-21T>A rs7403118 0.67414
NM_001145358.2(SIN3A):c.3466A>T (p.Met1156Leu) rs60213317 0.00716
NM_001145358.2(SIN3A):c.1428T>C (p.Ser476=) rs58376508 0.00645
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
NC_000015.10:g.75410285_75410288del rs879255619
NM_001145358.2(SIN3A):c.1015C>T (p.Gln339Ter) rs2141487525
NM_001145358.2(SIN3A):c.1017_1021del (p.Arg340fs)
NM_001145358.2(SIN3A):c.1051C>T (p.Pro351Ser) rs2073605317
NM_001145358.2(SIN3A):c.1229del (p.Lys410fs) rs2073599549
NM_001145358.2(SIN3A):c.1250C>T (p.Pro417Leu)
NM_001145358.2(SIN3A):c.1261dup (p.Ser421fs) rs2141486160
NM_001145358.2(SIN3A):c.1373A>G (p.His458Arg) rs768415150
NM_001145358.2(SIN3A):c.1411C>T (p.Arg471Ter)
NM_001145358.2(SIN3A):c.1430C>T (p.Ala477Val)
NM_001145358.2(SIN3A):c.1511T>A (p.Val504Asp)
NM_001145358.2(SIN3A):c.1526+1G>T
NM_001145358.2(SIN3A):c.1657C>T (p.Arg553Ter) rs1555444885
NM_001145358.2(SIN3A):c.1715G>T (p.Gly572Val)
NM_001145358.2(SIN3A):c.172_173del (p.Val58fs)
NM_001145358.2(SIN3A):c.1759del (p.Ser587fs) rs879255620
NM_001145358.2(SIN3A):c.1810C>T (p.Gln604Ter)
NM_001145358.2(SIN3A):c.2005C>T (p.Leu669Phe) rs2073302769
NM_001145358.2(SIN3A):c.2006T>A (p.Leu669His) rs1595897117
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.2152C>T (p.Arg718Ter) rs1444395453
NM_001145358.2(SIN3A):c.2192_2198del (p.His731fs)
NM_001145358.2(SIN3A):c.2197G>C (p.Gly733Arg) rs1567338837
NM_001145358.2(SIN3A):c.2258_2259dup (p.Glu754fs) rs2073271481
NM_001145358.2(SIN3A):c.2310T>C (p.Gly770=)
NM_001145358.2(SIN3A):c.2378T>C (p.Leu793Pro)
NM_001145358.2(SIN3A):c.240_252dup (p.His85delinsSerSerTer)
NM_001145358.2(SIN3A):c.2485G>C (p.Gly829Arg) rs2073227641
NM_001145358.2(SIN3A):c.2498A>T (p.Asp833Val)
NM_001145358.2(SIN3A):c.2506G>T (p.Glu836Ter)
NM_001145358.2(SIN3A):c.2512G>A (p.Glu838Lys)
NM_001145358.2(SIN3A):c.2552_2553insC (p.Val851_Lys852insTer)
NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter) rs2141424841
NM_001145358.2(SIN3A):c.2809_2810del (p.Lys937fs) rs1555443600
NM_001145358.2(SIN3A):c.2842A>G (p.Lys948Glu) rs2073219406
NM_001145358.2(SIN3A):c.2844_2847del (p.Lys948fs) rs1555443581
NM_001145358.2(SIN3A):c.2915G>T (p.Gly972Val)
NM_001145358.2(SIN3A):c.2948dup (p.Arg984fs) rs2141415824
NM_001145358.2(SIN3A):c.2955_2956del (p.Glu985fs) rs886037847
NM_001145358.2(SIN3A):c.3025C>T (p.Gln1009Ter)
NM_001145358.2(SIN3A):c.3045_3046dup (p.Ile1016fs) rs2141396556
NM_001145358.2(SIN3A):c.3118_3119del (p.Gln1040fs) rs1135401768
NM_001145358.2(SIN3A):c.3200T>C (p.Met1067Thr)
NM_001145358.2(SIN3A):c.3310C>T (p.Arg1104Ter) rs879255621
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.3384dup
NM_001145358.2(SIN3A):c.3473dup (p.Asn1158fs) rs2141368718
NM_001145358.2(SIN3A):c.349C>T (p.Gln117Ter) rs2141540759
NM_001145358.2(SIN3A):c.3591G>A (p.Gln1197=) rs2141368447
NM_001145358.2(SIN3A):c.3592-20T>A rs4886696
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.366+5T>C
NM_001145358.2(SIN3A):c.3785_3791del (p.Tyr1262fs)
NM_001145358.2(SIN3A):c.394C>T (p.Gln132Ter)
NM_001145358.2(SIN3A):c.474-1G>A
NM_001145358.2(SIN3A):c.619C>G (p.Gln207Glu)
NM_001145358.2(SIN3A):c.776A>C (p.His259Pro) rs1180165033
NM_001145358.2(SIN3A):c.803dup (p.Leu269fs) rs879255618
NM_001145358.2(SIN3A):c.848dup (p.His283fs) rs1567368243
NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter) rs1347764887
NM_001145358.2(SIN3A):c.92A>G (p.His31Arg)
NM_001145358.2(SIN3A):c.965dup (p.Asp323fs)

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