ClinVar Miner

List of variants studied for nanophthalmos 2 by Department of Pathology and Laboratory Medicine, Sinai Health System

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_031433.4(MFRP):c.1124+1G>T rs145719998 0.00011
NM_031433.4(MFRP):c.*853+1dup
NM_031433.4(MFRP):c.47C>A (p.Ser16Ter)
NM_031433.4(MFRP):c.498del (p.Asn167fs) rs587776596

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