ClinVar Miner

List of variants studied for microphthalmia with brain and digit anomalies by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001202.6(BMP4):c.-132-117A>G rs2761881 0.95939
NM_001202.6(BMP4):c.-7-39A>G rs2761880 0.83539
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
NM_001202.6(BMP4):c.-8+29C>T rs2855532 0.40039

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