List of variants in gene MKS1 reported as uncertain significance for Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28

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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: 37

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)	rs151023718	0.00083
NM_017777.4(MKS1):c.118C>T (p.His40Tyr)	rs199832333	0.00042
NM_017777.4(MKS1):c.544G>A (p.Val182Ile)	rs200185068	0.00041
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)	rs202112856	0.00029
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)	rs199910690	0.00011
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys)	rs35464956	0.00011
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu)	rs763534380	0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	rs137853105	0.00003
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys)	rs775558298	0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter)	rs772719574	0.00003
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)	rs201476674	0.00003
NM_017777.4(MKS1):c.1613G>A (p.Arg538His)	rs557678962	0.00002
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)	rs779953982	0.00002
NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala)	rs745809472	0.00001
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser)	rs587779734	0.00001
NM_017777.4(MKS1):c.1268C>T (p.Thr423Ile)	rs760184188	0.00001
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly)	rs754930606	0.00001
NM_017777.4(MKS1):c.1497del (p.Phe499fs)	rs780161503	0.00001
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys)	rs753620277	0.00001
NM_017777.4(MKS1):c.791C>T (p.Thr264Met)	rs561482424	0.00001
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del)	rs1555598065
NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr)
NM_017777.4(MKS1):c.1288_1314del (p.Thr430_Glu438del)	rs1555597302
NM_017777.4(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal)	rs1555597266
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys)	rs730882120
NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT	rs1555597194
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs)	rs1555596710
NM_017777.4(MKS1):c.1544G>A (p.Arg515His)	rs200658872
NM_017777.4(MKS1):c.1614del (p.Met539fs)	rs1555596555
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter)	rs1555596538
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)	rs786204222
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
NM_017777.4(MKS1):c.418-79G>T
NM_017777.4(MKS1):c.811C>A (p.His271Asn)	rs201771125
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup)	rs780100856
NM_017777.4(MKS1):c.955G>A (p.Val319Ile)	rs1393510784

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