ClinVar Miner

List of variants studied for blindness (disorder) by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001252024.2(TRPM1):c.3017G>A (p.Arg1006His) rs775810789 0.00003
NC_000015.10:g.(?_31001061)_(31161273_?)del
NM_000539.3(RHO):c.362G>T (p.Gly121Val) rs2084774644
NM_000539.3(RHO):c.806C>A (p.Ala269Asp) rs2084789658
NM_001252024.2(TRPM1):c.773T>C (p.Leu258Pro) rs869312176
NM_001256789.3(CACNA1F):c.1579_1599del (p.Leu527_Leu533del) rs2147917984
NM_001256789.3(CACNA1F):c.4054AAC[2] (p.Asn1354del) rs2065661046
NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr) rs1574385431
NM_001377295.2(GNAT2):c.605G>A (p.Gly202Glu) rs1570562309

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