ClinVar Miner

List of variants in gene GRM6 studied for congenital stationary night blindness 1B

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000843.4(GRM6):c.176A>C (p.Gln59Pro) rs2645329 0.57334
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu) rs62638197 0.00009
NM_000843.4(GRM6):c.448G>A (p.Gly150Ser) rs62638202 0.00003
NM_000843.4(GRM6):c.340C>T (p.Gln114Ter)
NM_000843.4(GRM6):c.722-1G>T rs766594761
NM_000843.4(GRM6):c.727G>T (p.Val243Phe) rs17078894
NM_000843.4(GRM6):c.727dup rs281865186
NM_000843.4(GRM6):c.824G>A (p.Gly275Asp)

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