List of variants in gene combination BBS5, LOC129935068 reported as pathogenic for autosomal recessive disease

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_152384.3(BBS5):c.24G>A (p.Trp8Ter)	rs373396081	0.00001
NM_152384.3(BBS5):c.2T>A (p.Met1Lys)	rs767822498	0.00001
NM_152384.3(BBS5):c.1A>G (p.Met1Val)	rs536117380
NM_152384.3(BBS5):c.1A>T (p.Met1Leu)
NM_152384.3(BBS5):c.54dup (p.Ala19fs)
NM_152384.3(BBS5):c.58C>T (p.Gln20Ter)
NM_152384.3(BBS5):c.5_8dup (p.Leu4fs)

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