ClinVar Miner

List of variants studied for Meckel syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys) rs751808973 0.00003
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs) rs1560184664
NM_183065.4(TMEM107):c.*755C>T rs75008470

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