ClinVar Miner

List of variants in gene BBS2 reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_031885.5(BBS2):c.1112del (p.Asp371fs) rs1472488128 0.00001
NM_031885.5(BBS2):c.117G>A (p.Lys39=) rs755877218 0.00001
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter) rs1597001788 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly) rs1228731722 0.00001
NM_031885.5(BBS2):c.345+1G>A rs771700269 0.00001
NM_031885.5(BBS2):c.406dup (p.Ala136fs) rs756003832 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln) rs544773389 0.00001
NM_031885.5(BBS2):c.118-2A>G rs2543742094
NM_031885.5(BBS2):c.1269del (p.Phe423fs) rs2543707834
NM_031885.5(BBS2):c.1397+1G>A rs1225299095
NM_031885.5(BBS2):c.1398-9_1410dup
NM_031885.5(BBS2):c.1493_1496del (p.Tyr498fs)
NM_031885.5(BBS2):c.1574dup (p.His525fs)
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs) rs750146549
NM_031885.5(BBS2):c.184dup (p.Leu62fs) rs1281259093
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter) rs1963758780
NM_031885.5(BBS2):c.198_199del (p.Leu68fs)
NM_031885.5(BBS2):c.217C>T (p.Gln73Ter) rs199940492
NM_031885.5(BBS2):c.254del (p.Pro85fs)
NM_031885.5(BBS2):c.255del (p.Glu86fs) rs2144193104
NM_031885.5(BBS2):c.344_345del (p.Glu115fs)
NM_031885.5(BBS2):c.416G>A (p.Gly139Asp)
NM_031885.5(BBS2):c.472-2A>C
NM_031885.5(BBS2):c.472del rs587777826
NM_031885.5(BBS2):c.717+1G>T rs1047075022
NM_031885.5(BBS2):c.774del (p.Asn258fs) rs777218224
NM_031885.5(BBS2):c.816_817del (p.Arg272_Ser273insTer)
NM_031885.5(BBS2):c.856del (p.Ser286fs) rs2543714143
NM_031885.5(BBS2):c.940+1G>A rs2543713728

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