ClinVar Miner

List of variants studied for cone-rod dystrophy 6 by Invitae

Included ClinVar conditions (3):
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Minimum conflict level:
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Total variants: 16
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HGVS dbSNP
NC_000017.10:g.(?_7906220)_(7919868_?)del
NM_000180.3(GUCY2D):c.1119G>A (p.Val373=) rs56034424
NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.3(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778
NM_000180.3(GUCY2D):c.2577G>T (p.Pro859=) rs112372281
NM_000180.3(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670
NM_000180.3(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.3(GUCY2D):c.3044-7G>T rs56348143
NM_000180.3(GUCY2D):c.3224+1G>C
NM_000180.3(GUCY2D):c.3225-7C>T rs79887212
NM_000180.3(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.3(GUCY2D):c.696G>T (p.Lys232Asn) rs181800610
NM_000180.3(GUCY2D):c.914del (p.His305Profs)
NM_000180.3:c.2431G>A
NM_000180.3:c.752T>C

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