ClinVar Miner

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

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002547.3(OPHN1):c.702+29G>A rs3788859 0.11700
NM_002547.3(OPHN1):c.115G>A (p.Val39Ile) rs41303733 0.05862
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.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_002547.3(OPHN1):c.702+11A>C rs375325266 0.00125
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
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.333G>A (p.Leu111=) rs765654561 0.00002
NM_002547.3(OPHN1):c.2307G>A (p.Gly769=) rs748176965 0.00001
NM_002547.3(OPHN1):c.1081G>C (p.Glu361Gln) rs1555952056
NM_002547.3(OPHN1):c.1749A>C (p.Ala583=) rs35137641
NM_002547.3(OPHN1):c.1946G>A (p.Gly649Glu) rs1555930507
NM_002547.3(OPHN1):c.2159-4C>T rs587784233
NM_002547.3(OPHN1):c.249C>T (p.Ile83=) rs143598006
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter) rs587784234
NM_002547.3(OPHN1):c.903G>C (p.Thr301=) rs370014854

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