ClinVar Miner

List of variants reported as likely pathogenic by Medizinische Klinik 1/ Institut für Bioinformatik, Universitätsklinikum Großhadern, München/ Helmholtz Zentrum München

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_015441.3(OLFML2B):c.1580G>A (p.Arg527Gln) rs756430892 0.00005
NM_015441.3(OLFML2B):c.1039C>T (p.Arg347Trp) rs863224947 0.00002
NM_015441.3(OLFML2B):c.1306G>T (p.Ala436Ser) rs863224948 0.00001
NM_015441.3(OLFML2B):c.1544G>A (p.Gly515Glu) rs863224949 0.00001
NM_015441.3(OLFML2B):c.2021G>A (p.Gly674Asp) rs863224950 0.00001
NM_015441.3(OLFML2B):c.44T>G (p.Val15Gly) rs781712271 0.00001
NM_015441.3(OLFML2B):c.1058G>A (p.Arg353His) rs142806829
NM_015441.3(OLFML2B):c.1606G>A (p.Gly536Ser) rs185436876

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