ClinVar Miner

List of variants studied for Meckel syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181 0.00700
NM_001077418.3(TMEM231):c.119T>G (p.Leu40Arg) rs1567441193
NM_017777.4(MKS1):c.1273+1G>C rs933577333

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