ClinVar Miner

List of variants studied for congenital limb malformation by Reproductive Health Research and Development, BGI Genomics

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_033419.5(PGAP3):c.*559C>T rs183208638 0.00300
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_001003722.2(GLE1):c.433-10A>G rs386833693 0.00082
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021

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