ClinVar Miner

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

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Gene type:
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Total variants: 16
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HGVS dbSNP
NM_031885.4(BBS2):c.1099dup (p.Leu367fs) rs797044632
NM_031885.4(BBS2):c.1110T>C (p.Ala370=) rs148990271
NM_031885.4(BBS2):c.118G>T (p.Val40Phe) rs886043059
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.1413A>C (p.Val471=) rs35294865
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_031885.4(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_031885.4(BBS2):c.1953T>C (p.Asn651=) rs200621431
NM_031885.4(BBS2):c.209= (p.Asn70=) rs4784677
NM_031885.4(BBS2):c.279A>T (p.Leu93Phe) rs886042185
NM_031885.4(BBS2):c.525A>G (p.Gly175=) rs34191306
NM_031885.4(BBS2):c.535-2A>G rs1555523398
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_031885.4(BBS2):c.823C>T (p.Arg275Ter) rs121908177

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