ClinVar Miner

List of variants in gene BBS2 reported as pathogenic by Counsyl

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Gene type:
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Total variants: 8
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HGVS dbSNP
NM_031885.4(BBS2):c.1438C>T (p.Arg480Ter) rs778090540
NM_031885.4(BBS2):c.1705C>T (p.Gln569Ter) rs1555521501
NM_031885.4(BBS2):c.175C>T (p.Gln59Ter) rs121908176
NM_031885.4(BBS2):c.565C>T (p.Arg189Ter) rs1273181642
NM_031885.4(BBS2):c.646C>T (p.Arg216Ter) rs121908180
NM_031885.4(BBS2):c.700C>T (p.Arg234Ter) rs779690256
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_031885.4(BBS2):c.814C>T (p.Arg272Ter) rs764164384

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