ClinVar Miner

List of variants studied for surfactant metabolism dysfunction, pulmonary, 5 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000395.3(CSF2RB):c.2491G>A (p.Gly831Ser) rs558205050 0.00001
NM_000395.3(CSF2RB):c.313G>A (p.Val105Ile) rs373460188 0.00001
NM_000395.3(CSF2RB):c.587C>A (p.Thr196Asn) rs748941609 0.00001

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