ClinVar Miner

List of variants studied for achromatopsia by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001079878.2(CNGA3):c.101+1G>A rs147118493
NM_001079878.2(CNGA3):c.1225C>T (p.Arg409Cys) rs141386891
NM_001079878.2(CNGA3):c.1252C>T (p.Arg418Trp) rs104893621
NM_007348.3(ATF6):c.160dup (p.Glu54Glyfs) rs1553227755
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360

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