List of variants in gene BBS12 reported as likely pathogenic for perceptual disorders

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)	rs138011813	0.00020
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)	rs767068756	0.00005
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)	rs1450190654	0.00004
NM_152618.3(BBS12):c.1092del (p.Glu365fs)	rs770218590	0.00003
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)	rs759088490	0.00002
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)	rs1357690062	0.00001
NM_152618.3(BBS12):c.1223A>G (p.Lys408Arg)	rs1578491064
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)	rs752762669
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)	rs1553941304
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter)	rs974173261

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