ClinVar Miner

List of variants studied for autoinflammatory syndrome, familial, X-linked, Behcet-like 2

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001421.4(ELF4):c.1015del (p.Ala339fs) rs2124612467
NM_001421.4(ELF4):c.1936C>T (p.Pro646Ser)
NM_001421.4(ELF4):c.668A>T (p.Asn223Ile) rs2124614303
NM_001421.4(ELF4):c.691T>C (p.Trp231Arg) rs2124614270
NM_001421.4(ELF4):c.710G>T (p.Gly237Val)
NM_001421.4(ELF4):c.724G>A (p.Val242Met) rs2523027297
NM_001421.4(ELF4):c.752G>C (p.Trp251Ser) rs2124614205

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