ClinVar Miner

List of variants in gene SLC6A8 reported as not provided for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971 0.00003
NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del) rs782433037
NM_005629.4(SLC6A8):c.1016+2T>C rs1557045066
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del) rs80338739
NM_005629.4(SLC6A8):c.829_843dup (p.Val277_Leu281dup) rs1603216676
NM_005629.4(SLC6A8):c.964G>T (p.Gly322Trp) rs1603216830
Single allele

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