List of variants in gene MKKS studied 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
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_170784.3(MKKS):c.117C>T (p.Pro39=)	rs16991547	0.18435
NM_170784.3(MKKS):c.534C>T (p.Ile178=)	rs17852625	0.14082
NM_170784.3(MKKS):c.-74G>A	rs113994194	0.00070
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.7C>T (p.Arg3Cys)	rs779042065	0.00004
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.837del (p.Gly280fs)	rs776004321	0.00001
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr)	rs147704542	0.00001
NM_170784.3(MKKS):c.1184A>G (p.His395Arg)
NM_170784.3(MKKS):c.1235G>T (p.Cys412Phe)	rs1396840386
NM_170784.3(MKKS):c.1478del (p.Leu493fs)	rs1568662687
NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr)	rs2122219712
NM_170784.3(MKKS):c.1526A>T (p.Asn509Ile)
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.515_516del (p.Glu172fs)	rs2064904675
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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