List of variants in gene BBS2 reported as pathogenic for Retinitis pigmentosa

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	rs138043021	0.00010
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	rs121908179	0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)	rs121908175	0.00003
NM_031885.5(BBS2):c.1290dup (p.His431fs)	rs777420525
NM_031885.5(BBS2):c.413T>G (p.Ile138Ser)	rs1386789664
NM_031885.5(BBS2):c.661del (p.Leu221fs)	rs770258677

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