ClinVar Miner

List of variants reported as likely pathogenic for blindness (disorder) by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001252024.2(TRPM1):c.1460T>A (p.Met487Lys) rs1596017653
NM_001252024.2(TRPM1):c.282T>G (p.Tyr94Ter) rs372529012
NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile) rs1574390811
NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro) rs1330263985
NM_006204.4(PDE6C):c.1589T>C (p.Phe530Ser) rs1564801134

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