List of variants in gene MKKS reported as likely pathogenic for Bardet-Biedl syndrome

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)	rs768929313	0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs)	rs776004321	0.00001
NM_170784.3(MKKS):c.1235G>T (p.Cys412Phe)	rs1396840386
NM_170784.3(MKKS):c.515_516del (p.Glu172fs)	rs2064904675
NM_170784.3(MKKS):c.518A>C (p.His173Pro)

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