ClinVar Miner

List of variants studied for Blau syndrome by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_001370466.1(NOD2):c.1065C>G (p.Asp355Glu) rs104895476
NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) rs104895477
NM_001370466.1(NOD2):c.1324C>T (p.Leu442Phe) rs104895460
NM_001370466.1(NOD2):c.1406A>T (p.His469Leu) rs104895472
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) rs104895462
NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) rs104895461

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