ClinVar Miner

List of variants studied for congenital stationary night blindness 1G

Included ClinVar conditions (2):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_144499.3(GNAT1):c.675C>T (p.Ala225=) rs4688684 0.00368
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter) rs374913800 0.00003
NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter) rs143481438 0.00001
NM_144499.3(GNAT1):c.1015A>G (p.Ile339Val) rs1699480267
NM_144499.3(GNAT1):c.259C>T (p.Leu87Phe) rs1699444080
NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly) rs786205854
NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser) rs1559746613

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