ClinVar Miner

List of variants in gene MKS1 reported as likely pathogenic by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_017777.4(MKS1):c.958G>A (p.Val320Ile) rs386834053 0.00002
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter) rs386834050 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.1048C>G (p.Gln350Glu) rs386834041
NM_017777.4(MKS1):c.1048C>T (p.Gln350Ter) rs386834041
NM_017777.4(MKS1):c.1407+2del rs386834042
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1490G>A (p.Arg497Lys) rs386834045
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer) rs386834047
NM_017777.4(MKS1):c.424C>T (p.Gln142Ter) rs386834049

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