ClinVar Miner

List of variants in gene OPHN1 reported as benign by Genetic Services Laboratory, University of Chicago

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561 0.00385
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_002547.3(OPHN1):c.2307G>A (p.Gly769=) rs748176965 0.00001
NM_002547.3(OPHN1):c.1749A>C (p.Ala583=) rs35137641
NM_002547.3(OPHN1):c.903G>C (p.Thr301=) rs370014854

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