ClinVar Miner

List of variants reported as pathogenic for chromosome 15q24 deletion syndrome

Included ClinVar conditions (2):
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Total variants: 16
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)
NM_001145357.1(SIN3A):c.1010_1013del rs879255619
NM_001145358.2(SIN3A):c.1015C>T (p.Gln339Ter) rs2141487525
NM_001145358.2(SIN3A):c.1229del (p.Lys410fs) rs2073599549
NM_001145358.2(SIN3A):c.172_173del (p.Val58fs)
NM_001145358.2(SIN3A):c.1759del (p.Ser587fs) rs879255620
NM_001145358.2(SIN3A):c.2258_2259dup (p.Glu754fs) rs2073271481
NM_001145358.2(SIN3A):c.2506G>T (p.Glu836Ter)
NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter) rs2141424841
NM_001145358.2(SIN3A):c.2955_2956del (p.Glu985fs) rs886037847
NM_001145358.2(SIN3A):c.3118_3119del (p.Gln1040fs) rs1135401768
NM_001145358.2(SIN3A):c.3310C>T (p.Arg1104Ter) rs879255621
NM_001145358.2(SIN3A):c.3384dup
NM_001145358.2(SIN3A):c.349C>T (p.Gln117Ter) rs2141540759
NM_001145358.2(SIN3A):c.803dup (p.Leu269fs) rs879255618
NM_001145358.2(SIN3A):c.848dup (p.His283fs) rs1567368243

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