ClinVar Miner

List of variants reported as pathogenic for Behcet's syndrome by Department of Immunology,Hospital Universitario Virgen del Rocio

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Total variants: 17
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HGVS dbSNP
NM_000243.2(MEFV):c.1099C>G (p.Leu367Val) rs1057519328
NM_000243.2(MEFV):c.1211A>G (p.His404Arg) rs755659290
NM_000243.2(MEFV):c.332G>A (p.Gly111Glu) rs751454741
NM_001065.3(TNFRSF1A):c.463C>T (p.His155Tyr) rs886039866
NM_001065.3(TNFRSF1A):c.596T>C (p.Ile199Thr) rs104895247
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys) rs200900510
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile) rs74317375
NM_001282225.2(ADA2):c.145C>T (p.Arg49Trp) rs199614299
NM_001282225.2(ADA2):c.740C>T (p.Ala247Val) rs750868279
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) rs146597836
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851
NM_003978.5(PSTPIP1):c.364G>A (p.Val122Ile) rs886041107
NM_003978.5(PSTPIP1):c.865G>C (p.Asp289His) rs774164456
NM_022162.2(NOD2):c.2197G>T (p.Val733Leu) rs746055479
NM_022162.2(NOD2):c.241C>G (p.Leu81Val) rs34936594
NM_022162.2(NOD2):c.2446G>A rs886040969
NM_022162.3(NOD2):c.1045C>T (p.Leu349Phe) rs752615209

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