ClinVar Miner

List of variants in gene BBS2 reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_031885.4(BBS2):c.1190C>G (p.Thr397Ser) rs368138622
NM_031885.4(BBS2):c.1380C>T (p.Phe460=) rs141046144
NM_031885.4(BBS2):c.1953T>C (p.Asn651=) rs200621431
NM_031885.4(BBS2):c.279A>T (p.Leu93Phe) rs886042185
NM_031885.4(BBS2):c.525A>G (p.Gly175=) rs34191306

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