List of variants in gene BBIP1 reported as uncertain significance for Bardet-Biedl syndrome 18

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001195305.3(BBIP1):c.137T>C (p.Met46Thr)	rs11548767	0.00103
NM_001195305.3(BBIP1):c.116C>T (p.Pro39Leu)	rs912754275	0.00017
NM_001195305.3(BBIP1):c.38-6T>C	rs541703290	0.00013
NM_001195305.3(BBIP1):c.233G>A (p.Arg78His)	rs532149239	0.00010
NM_001195305.3(BBIP1):c.46A>T (p.Thr16Ser)	rs946591185	0.00007
NM_001195305.3(BBIP1):c.175A>C (p.Lys59Gln)	rs1332007527	0.00006
NM_001195305.3(BBIP1):c.142A>G (p.Met48Val)	rs565980586	0.00004
NM_001195305.3(BBIP1):c.245_248dup (p.Glu84fs)	rs1210114050	0.00003
NM_001195305.3(BBIP1):c.263G>A (p.Arg88Gln)	rs781040735	0.00003
NM_001195305.3(BBIP1):c.37+3A>T	rs1247299009	0.00002
NM_001195305.3(BBIP1):c.177A>T (p.Lys59Asn)	rs1845964280	0.00001
NM_001195305.3(BBIP1):c.50T>A (p.Ile17Lys)	rs879329788	0.00001
NM_001195305.3(BBIP1):c.85A>G (p.Met29Val)	rs964029226	0.00001
NM_001195305.3(BBIP1):c.-57+4A>C
NM_001195305.3(BBIP1):c.148_150dup (p.Leu50dup)	rs991079395
NM_001195305.3(BBIP1):c.187_188del (p.Leu63fs)
NM_001195305.3(BBIP1):c.38-6071C>G	rs760064445

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