ClinVar Miner

List of variants in gene MKS1 reported as likely benign for not provided

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.915+242G>T rs116573488 0.01285
NM_001165927.1(MKS1):c.50+56_50+57del rs10544427 0.01280
NM_017777.4(MKS1):c.190+235A>T rs148725880 0.00864
NM_017777.4(MKS1):c.1408-187G>C rs114664914 0.00634
NM_017777.4(MKS1):c.*322G>T rs185405908 0.00571
NM_017777.4(MKS1):c.645-96A>G rs146873050 0.00426
NM_017777.4(MKS1):c.262-129A>G rs73329632 0.00356
NM_017777.4(MKS1):c.*38del rs34304018 0.00322
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_017777.4(MKS1):c.749+13A>G rs199550514 0.00072
NM_017777.4(MKS1):c.*134C>T rs34224064 0.00041
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_017777.4(MKS1):c.644+8G>T rs370117125 0.00022
NM_017777.4(MKS1):c.351G>A (p.Ser117=) rs370781583 0.00016
NM_017777.4(MKS1):c.1128G>A (p.Thr376=) rs369141016 0.00013
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_017777.4(MKS1):c.1435C>T (p.Arg479Cys) rs769442220 0.00010
NM_017777.4(MKS1):c.516-10T>C rs375046501 0.00009
NM_017777.4(MKS1):c.1134A>G (p.Glu378=) rs77365082 0.00007
NM_017777.4(MKS1):c.1014G>A (p.Leu338=) rs201998680 0.00004
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys) rs201476674 0.00003
NM_017777.4(MKS1):c.1025-95dup rs536733808
NM_017777.4(MKS1):c.1110C>T (p.His370=) rs1171331449
NM_017777.4(MKS1):c.1408-49G>C rs200222851
NM_017777.4(MKS1):c.1671G>A (p.Leu557=) rs11548967
NM_017777.4(MKS1):c.749+131G>A rs115048531
NM_017777.4(MKS1):c.858+197_858+198del rs138353351

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