ClinVar Miner

List of variants in gene GNAT1 reported as uncertain significance for congenital stationary night blindness autosomal dominant 3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_144499.3(GNAT1):c.*551C>T rs116031664 0.00179
NM_144499.3(GNAT1):c.*1274G>A rs891084737 0.00034
NM_144499.3(GNAT1):c.*1369G>T rs563891409 0.00032
NM_144499.3(GNAT1):c.*1954C>T rs377634380 0.00029
NM_144499.3(GNAT1):c.*5C>T rs554301590 0.00026
NM_144499.3(GNAT1):c.*728C>T rs774324843 0.00010
NM_144499.3(GNAT1):c.*903G>A rs912176233 0.00009
NM_144499.3(GNAT1):c.882C>T (p.Asp294=) rs775329814 0.00007
NM_144499.3(GNAT1):c.*2046G>C rs942292553 0.00004
NM_144499.3(GNAT1):c.*2267C>T rs886058693 0.00004
NM_144499.3(GNAT1):c.773C>T (p.Thr258Met) rs769077570 0.00004
NM_144499.3(GNAT1):c.*1379G>A rs886058689 0.00003
NM_144499.3(GNAT1):c.*1991G>A rs886058690 0.00003
NM_144499.3(GNAT1):c.165C>T (p.Asp55=) rs776566245 0.00002
NM_144499.3(GNAT1):c.*1101C>T rs886058687 0.00001
NM_144499.3(GNAT1):c.*2074T>C rs886058691 0.00001
NM_144499.3(GNAT1):c.*2129G>A rs886058692 0.00001
NM_144499.3(GNAT1):c.*678C>T rs1004131014 0.00001
NM_144499.3(GNAT1):c.926G>C (p.Arg309Pro) rs367790137 0.00001
NM_144499.3(GNAT1):c.*1205C>T rs886058688
NM_144499.3(GNAT1):c.*128T>A rs886058686
NM_144499.3(GNAT1):c.*1789A>G rs187475557
NM_144499.3(GNAT1):c.*2128C>A rs879841527
NM_144499.3(GNAT1):c.*806G>A rs574271694
NM_144499.3(GNAT1):c.*834T>A rs760716503
NM_144499.3(GNAT1):c.149+8C>A rs1699440055
NM_144499.3(GNAT1):c.450-11G>T rs2109139018
NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser) rs1559746613
NM_144499.3(GNAT1):c.830C>T (p.Ala277Val) rs886058685

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