ClinVar Miner

List of variants in gene SLC6A8 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) rs140115896 0.00334
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933 0.00248
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn) rs201526436 0.00036
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) rs374163604 0.00032
NM_005629.4(SLC6A8):c.1890G>C (p.Val630=) rs376385129 0.00023
NM_005629.4(SLC6A8):c.1473C>T (p.Cys491=) rs122453118 0.00013
NM_005629.4(SLC6A8):c.1533C>T (p.Ile511=) rs782114947 0.00011
NM_005629.4(SLC6A8):c.826C>T (p.Leu276=) rs138634140 0.00011
NM_005629.4(SLC6A8):c.1496-4G>A rs782589547 0.00010
NM_005629.4(SLC6A8):c.1038C>T (p.Leu346=) rs369716393 0.00006
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=) rs782244505 0.00005
NM_005629.4(SLC6A8):c.498G>A (p.Thr166=) rs201260657 0.00005
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971 0.00003
NM_005629.4(SLC6A8):c.1627G>A (p.Glu543Lys) rs782028471 0.00002
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg) rs1233444890 0.00002
NM_005629.4(SLC6A8):c.1393-7C>T rs373525249
NM_005629.4(SLC6A8):c.1425C>T (p.Tyr475=) rs2091475721
NM_005629.4(SLC6A8):c.1496-4G>T rs782589547
NM_005629.4(SLC6A8):c.1583del (p.Pro528fs) rs1557045581
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=) rs782373793
NM_005629.4(SLC6A8):c.974C>G (p.Thr325Arg) rs797045972

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