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

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

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)	rs74315396	0.00011
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)	rs74315398	0.00006
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu)	rs779116830	0.00001
NM_170784.3(MKKS):c.119C>G (p.Ser40Ter)	rs753338844	0.00001
NM_170784.3(MKKS):c.1239_1242dup (p.Thr415Ter)	rs1306231185	0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)	rs768929313	0.00001
NM_170784.3(MKKS):c.1478del (p.Leu493fs)	rs1568662687
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg)	rs1297985227
NM_170784.3(MKKS):c.431_441del (p.Phe144fs)	rs113994195
NM_170784.3(MKKS):c.492T>A (p.Cys164Ter)	rs1568666460
NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter)	rs74315397
NM_170784.3(MKKS):c.873_876dup (p.Cys293fs)	rs113994196
NM_170784.3(MKKS):c.885dup (p.Val296fs)

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