ClinVar Miner

List of variants studied for Blau syndrome; Inflammatory bowel disease 1 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 25
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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.2840C>T (p.Ser947Phe) rs200463498 0.00011
NM_001370466.1(NOD2):c.956G>A (p.Arg319Gln) rs759520552 0.00004
NM_001370466.1(NOD2):c.2528G>A (p.Arg843Lys) rs768889214 0.00002
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.2443T>C (p.Cys815Arg) rs146313066 0.00001
NM_001370466.1(NOD2):c.1022T>C (p.Leu341Pro) rs1964452487
NM_001370466.1(NOD2):c.1058G>A (p.Gly353Asp) rs1964456255
NM_001370466.1(NOD2):c.1112C>T (p.Thr371Ile) rs1964461594
NM_001370466.1(NOD2):c.1379T>A (p.Val460Asp) rs1964489081
NM_001370466.1(NOD2):c.1639C>G (p.Gln547Glu) rs1264862631
NM_001370466.1(NOD2):c.1852C>A (p.Pro618Thr) rs1228502653
NM_001370466.1(NOD2):c.2022C>T (p.Leu674=) rs1459264285
NM_001370466.1(NOD2):c.2026C>G (p.Arg676Gly) rs5743277
NM_001370466.1(NOD2):c.216C>T (p.Ala72=) rs1398956455
NM_001370466.1(NOD2):c.2226G>C (p.Leu742Phe) rs1266638330
NM_001370466.1(NOD2):c.2419A>C (p.Lys807Gln) rs1964807205
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.706G>A (p.Val236Met) rs756042160
NM_001370466.1(NOD2):c.9G>A (p.Ser3=) rs774491311

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