ClinVar Miner

List of variants reported as likely pathogenic for Meckel syndrome, type 1 by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_153704.5(TMEM67):c.514C>T (p.Arg172Ter) rs765468645

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