ClinVar Miner

List of variants reported as uncertain significance for congenital stationary night blindness by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001004334.4(GPR179):c.1133C>T (p.Ala378Val) rs192426710 0.00128
NM_001256789.3(CACNA1F):c.1936G>A (p.Ala646Thr) rs986816548 0.00007
NM_001004334.4(GPR179):c.2413G>C (p.Glu805Gln) rs199619898
NM_001256789.3(CACNA1F):c.2624T>A (p.Val875Glu) rs2065752304
NM_144499.3(GNAT1):c.1015A>G (p.Ile339Val) rs1699480267
NM_144499.3(GNAT1):c.259C>T (p.Leu87Phe) rs1699444080

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