ClinVar Miner

List of variants in gene SORL1 reported as benign by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_003105.6(SORL1):c.5899G>A (p.Val1967Ile) rs1792120 0.98431
NM_003105.6(SORL1):c.3460+12T>C rs1792126 0.98406
NM_003105.6(SORL1):c.3220C>G (p.Gln1074Glu) rs1699107 0.98401
NM_003105.6(SORL1):c.807T>C (p.His269=) rs12364988 0.50356
NM_003105.6(SORL1):c.4752T>A (p.Ala1584=) rs3824968 0.30214
NM_003105.6(SORL1):c.3561T>G (p.Ser1187=) rs2070045 0.23418
NM_003105.6(SORL1):c.3581-18C>G rs73595277 0.13543
NM_003105.6(SORL1):c.5685G>A (p.Lys1895=) rs17125548 0.08635
NM_003105.6(SORL1):c.1582G>A (p.Ala528Thr) rs2298813 0.06616
NM_003105.6(SORL1):c.2499A>T (p.Thr833=) rs78274293 0.05103
NM_003105.6(SORL1):c.237G>A (p.Arg79=) rs114331262 0.02453
NM_003105.6(SORL1):c.3814+10T>G rs146197030 0.01506
NM_003105.6(SORL1):c.808G>A (p.Glu270Lys) rs117260922 0.01456
NM_003105.6(SORL1):c.5439T>A (p.His1813Gln) rs62622819 0.00480
NM_003105.6(SORL1):c.1653= (p.Ala551=)
NM_003105.6(SORL1):c.3738C>T (p.Asn1246=) rs1699102

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