ClinVar Miner

List of variants studied for Meckel syndrome by Sydney Genome Diagnostics, Children's Hospital Westmead

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153704.6(TMEM67):c.2301del (p.Asp768fs) rs386834191

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