ClinVar Miner

List of variants reported as likely benign for Blau syndrome; Inflammatory bowel disease 1 by Invitae

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_001370466.1(NOD2):c.-8-2185C>T rs144993105 0.00024
NM_001370466.1(NOD2):c.1923G>A (p.Pro641=) rs199475914 0.00019
NM_001370466.1(NOD2):c.510C>T (p.Ala170=) rs765729513 0.00002
NM_001370466.1(NOD2):c.1755G>A (p.Ala585=) rs756626309 0.00001
NM_001370466.1(NOD2):c.2022C>T (p.Leu674=) rs1459264285
NM_001370466.1(NOD2):c.216C>T (p.Ala72=) rs1398956455
NM_001370466.1(NOD2):c.2586A>C (p.Gln862His) rs764244331
NM_001370466.1(NOD2):c.2652G>A (p.Val884=) rs1359941511
NM_001370466.1(NOD2):c.2881C>T (p.Leu961=) rs1596908135
NM_001370466.1(NOD2):c.9G>A (p.Ser3=) rs774491311

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