ClinVar Miner

List of variants studied for retinal disorder by DASA

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter) rs759781200 0.00010
NM_020461.4(TUBGCP6):c.895C>T (p.Arg299Ter) rs192919234 0.00004
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter) rs752242512 0.00001
NM_000539.3(RHO):c.266G>A (p.Gly89Asp) rs104893772
NM_001379500.1(COL18A1):c.2978_2987del (p.Pro993fs) rs756797124
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782

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