ClinVar Miner

List of variants in gene SLC45A1 reported as uncertain significance for Intellectual developmental disorder with neuropsychiatric features

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001080397.3(SLC45A1):c.2009G>A (p.Arg670Gln) rs116783930 0.00070
NM_001080397.3(SLC45A1):c.1178G>A (p.Gly393Asp) rs199862899 0.00046
NM_001080397.3(SLC45A1):c.1256T>A (p.Leu419Gln) rs374431547 0.00023
NM_001080397.3(SLC45A1):c.1582G>A (p.Val528Ile) rs367968730 0.00016
NM_001080397.3(SLC45A1):c.170G>A (p.Arg57His) rs553880338 0.00009
NM_001080397.3(SLC45A1):c.814T>C (p.Phe272Leu) rs200094048 0.00009
NM_001080397.3(SLC45A1):c.124C>T (p.Arg42Trp) rs146331013 0.00008
NM_001080397.3(SLC45A1):c.86C>T (p.Thr29Met) rs376642457 0.00003
NM_001080397.3(SLC45A1):c.935C>T (p.Pro312Leu) rs781435537 0.00003
NM_001080397.3(SLC45A1):c.526C>T (p.Arg176Trp) rs781036625 0.00001
NM_001080397.3(SLC45A1):c.110G>T (p.Arg37Leu) rs12074190
NM_001080397.3(SLC45A1):c.114C>A (p.His38Gln) rs2124291716
NM_001080397.3(SLC45A1):c.1237C>T (p.Arg413Cys)
NM_001080397.3(SLC45A1):c.1256T>C (p.Leu419Pro) rs374431547
NM_001080397.3(SLC45A1):c.1468G>A (p.Val490Met)
NM_001080397.3(SLC45A1):c.1954C>T (p.Leu652Phe) rs534819852
NM_001080397.3(SLC45A1):c.742G>C (p.Val248Leu) rs1640342478
NM_001080397.3(SLC45A1):c.938C>G (p.Ser313Cys) rs927593220

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