ClinVar Miner

List of variants in gene SIN3A reported as likely pathogenic for chromosome 15q24 deletion syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001145358.2(SIN3A):c.1261dup (p.Ser421fs) rs2141486160
NM_001145358.2(SIN3A):c.1526+1G>T
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.240_252dup (p.His85delinsSerSerTer)
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.2844_2847del (p.Lys948fs) rs1555443581
NM_001145358.2(SIN3A):c.2948dup (p.Arg984fs) rs2141415824
NM_001145358.2(SIN3A):c.3045_3046dup (p.Ile1016fs) rs2141396556
NM_001145358.2(SIN3A):c.3473dup (p.Asn1158fs) rs2141368718
NM_001145358.2(SIN3A):c.366+5T>C
NM_001145358.2(SIN3A):c.3785_3791del (p.Tyr1262fs)
NM_001145358.2(SIN3A):c.474-1G>A
NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter) rs1347764887

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