ClinVar Miner

List of variants studied for Blau syndrome; Psoriatic arthritis, susceptibility to; Yao syndrome; Inflammatory bowel disease 1 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) rs114664276 0.00131
NM_001370466.1(NOD2):c.2116G>A (p.Val706Met) rs746055479 0.00004
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=) rs142559533 0.00004
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001370466.1(NOD2):c.963A>G (p.Leu321=) rs2150808670

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