ClinVar Miner

List of variants in gene SLC24A1 reported as benign for congenital stationary night blindness

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004727.3(SLC24A1):c.109A>T (p.Thr37Ser) rs3743171 0.19289
NM_004727.3(SLC24A1):c.*1618A>G rs62014380 0.06922
NM_004727.3(SLC24A1):c.*732T>G rs62014379 0.06512
NM_004727.3(SLC24A1):c.937T>G (p.Leu313Val) rs35571449 0.06350
NM_004727.3(SLC24A1):c.*718C>A rs12148277 0.03721
NM_004727.3(SLC24A1):c.*766G>A rs140766380 0.03114
NM_004727.3(SLC24A1):c.931G>C (p.Val311Leu) rs34363823 0.01175
NM_004727.3(SLC24A1):c.*1199T>C rs114414983 0.01090
NM_004727.3(SLC24A1):c.1488C>T (p.Gly496=) rs35366838 0.00946
NM_004727.3(SLC24A1):c.2594A>G (p.Glu865Gly) rs142249570 0.00691
NM_004727.3(SLC24A1):c.*778C>T rs150126578 0.00629
NM_004727.3(SLC24A1):c.-182T>C rs190488986 0.00110
NM_004727.3(SLC24A1):c.1374C>T (p.His458=) rs370043190 0.00013
NM_004727.3(SLC24A1):c.2884-15G>A rs371022531 0.00006

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