ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome by Reproductive Health Research and Development, BGI Genomics

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_001003722.2(GLE1):c.433-10A>G rs386833693 0.00082
NM_030653.4(DDX11):c.1763-1G>C rs148856317 0.00024
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His) rs369091875 0.00008
NM_001360.3(DHCR7):c.964-1G>C rs138659167

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