ClinVar Miner

List of variants reported as likely benign for Meckel syndrome by Natera, Inc.

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.12C>T (p.Thr4=) rs372471169 0.00160
NM_017777.4(MKS1):c.261+7C>T rs200156751 0.00117
NM_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00086
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu) rs201845569 0.00052
NM_017777.4(MKS1):c.491G>A (p.Arg164His) rs200149256 0.00018
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.1024+10A>G rs749001732 0.00003
NM_017777.4(MKS1):c.1260G>A (p.Leu420=) rs749099410 0.00003
NM_017777.4(MKS1):c.1233T>C (p.Arg411=) rs201128765 0.00002
NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn) rs372554696

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