ClinVar Miner

List of variants studied for Brunner syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000240.3(MAOA):c.133C>T (p.Arg45Trp) rs796065312
NM_000240.3(MAOA):c.402G>A (p.Met134Ile)
NM_000240.3(MAOA):c.515G>A (p.Arg172Gln) rs58524323
NM_000240.3(MAOA):c.730G>A (p.Val244Ile) rs1135401773
NM_000240.3(MAOA):c.749_750insT (p.Ser251Lysfs) rs796065311
NM_000240.3(MAOA):c.797G>T (p.Cys266Phe) rs587777457
NM_000240.3(MAOA):c.825G>A (p.Pro275=) rs138703731
NM_000240.3(MAOA):c.886C>T (p.Gln296Ter) rs72554632
NM_000240.3(MAOA):c.890G>A (p.Arg297Gln)

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