ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002547.3(OPHN1):c.702+11A>C rs375325266 0.00125
NM_002547.3(OPHN1):c.1830C>T (p.Ser610=) rs368803937 0.00008
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly) rs141368794 0.00006
NM_002547.3(OPHN1):c.1722G>A (p.Pro574=) rs752918613 0.00005
NM_002547.3(OPHN1):c.702+8T>C rs369382527 0.00005
NM_002547.3(OPHN1):c.1126A>G (p.Lys376Glu) rs797045849 0.00002
NM_002547.3(OPHN1):c.1081G>C (p.Glu361Gln) rs1555952056
NM_002547.3(OPHN1):c.1946G>A (p.Gly649Glu) rs1555930507
NM_002547.3(OPHN1):c.2159-4C>T rs587784233

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