ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) rs140115896 0.00334
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.498G>A (p.Thr166=) rs201260657 0.00005
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971 0.00003
NM_005629.4(SLC6A8):c.1393-7C>T rs373525249
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=) rs782373793

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