ClinVar Miner

List of variants studied for Meckel syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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_001378615.1(CC2D2A):c.3763C>T (p.Arg1255Ter) rs1271825377 0.00001
NM_001378615.1(CC2D2A):c.2164G>T (p.Glu722Ter)
NM_024715.4(TXNDC15):c.304G>C (p.Glu102Gln)

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