ClinVar Miner

List of variants in gene OPHN1 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002547.3(OPHN1):c.2324+10G>T rs144475530 0.00256
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.1839A>G (p.Glu613=) rs146588152 0.00129
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753 0.00017
NM_002547.3(OPHN1):c.1184A>G (p.Asn395Ser) rs150084635 0.00012
NM_002547.3(OPHN1):c.702+8T>C rs369382527 0.00005
NM_002547.3(OPHN1):c.1008C>T (p.Asp336=) rs780149034 0.00003
NM_002547.3(OPHN1):c.1060G>A (p.Ala354Thr) rs775368827 0.00002
NM_002547.3(OPHN1):c.2075C>A (p.Pro692His) rs745381936 0.00002
NM_002547.3(OPHN1):c.503A>G (p.Asp168Gly) rs1462750573 0.00002
NM_002547.3(OPHN1):c.2307G>A (p.Gly769=) rs748176965 0.00001
NM_002547.3(OPHN1):c.1547A>G (p.Glu516Gly) rs886044308
NM_002547.3(OPHN1):c.1903C>A (p.His635Asn) rs794727340
NM_002547.3(OPHN1):c.250G>A (p.Ala84Thr) rs398123687
NM_002547.3(OPHN1):c.360G>A (p.Arg120=) rs727504062
NM_002547.3(OPHN1):c.413G>T (p.Gly138Val) rs727504061
NM_002547.3(OPHN1):c.494T>A (p.Leu165Gln) rs1555954685
NM_002547.3(OPHN1):c.772del (p.Gln258fs) rs886044499

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