ClinVar Miner

List of variants reported as pathogenic for age-related macular degeneration by Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_201548.5(CERKL):c.678-1G>A rs1209393896 0.00001
NM_000350.3(ABCA4):c.2453G>C (p.Gly818Ala)
NM_000350.3(ABCA4):c.2741_2742del (p.His914fs) rs2101059717
NM_000350.3(ABCA4):c.2807del (p.Lys936fs) rs2101057370
NM_000350.3(ABCA4):c.2908del (p.Thr970fs) rs2101057076
NM_000350.3(ABCA4):c.3608-1G>A
NM_000350.3(ABCA4):c.3814-2A>T rs1660350150
NM_000350.3(ABCA4):c.3898del (p.Arg1300fs)
NM_000350.3(ABCA4):c.4243dup (p.Thr1415fs)
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His) rs2100994049
NM_000350.3(ABCA4):c.768+1G>A
NM_000350.3:c.1876_1999del
NM_000554.6(CRX):c.590del (p.Pro197fs) rs1968169100
NM_001029883.3(PCARE):c.947del (p.Asn316fs) rs779886453
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.1424T>A (p.Val475Asp) rs2149234796
NM_006017.3(PROM1):c.1579-3T>G rs1355865032
NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter) rs1324631413
NM_006017.3(PROM1):c.784+1G>A rs745704627
NM_198506.5(LRIT3):c.277G>T (p.Val93Leu) rs1479270315
NM_198506.5(LRIT3):c.59_61del (p.Leu20del)

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