ClinVar Miner

List of variants studied for Yao syndrome

Included ClinVar conditions (3):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly) rs5743278 0.01319
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.850C>T (p.Arg284Trp) rs104895427 0.00051
NM_001370466.1(NOD2):c.2295C>T (p.Pro765=) rs5743280 0.00031
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu) rs104895489 0.00010
NM_001370466.1(NOD2):c.1037G>A (p.Arg346His) rs764176270 0.00005
NM_001370466.1(NOD2):c.1706C>T (p.Thr569Met) rs142077546 0.00004
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.230T>C (p.Ile77Thr) rs912789864 0.00003
NM_001370466.1(NOD2):c.1087G>A (p.Asp363Asn) rs147283871 0.00002
NM_001370466.1(NOD2):c.22C>T (p.Gln8Ter) rs1567380372 0.00001
NM_001370466.1(NOD2):c.1160A>G (p.Asn387Ser) rs104895429
NM_001370466.1(NOD2):c.1529C>A (p.Pro510His) rs1567392735
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_001370466.1(NOD2):c.1843A>G (p.Arg615Gly) rs1964529815
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001370466.1(NOD2):c.749G>A (p.Gly250Asp) rs1437917228
NM_001370466.1(NOD2):c.963A>G (p.Leu321=) rs2150808670
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847

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