ClinVar Miner

List of variants studied for achromatopsia 3 by Mendelics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_019098.4(CNGB3):c.1810C>T (p.Arg604Ter) rs200805087
NM_019098.4(CNGB3):c.2T>C (p.Met1Thr) rs1554619514
NM_019098.4(CNGB3):c.702T>G (p.Cys234Trp) rs6471482
NM_019098.4(CNGB3):c.852+1G>T rs1201521544
NM_019098.4(CNGB3):c.892A>C (p.Thr298Pro) rs4961206

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