ClinVar Miner

List of variants in gene OPTN reported by PreventionGenetics, part of Exact Sciences

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.553-5C>T rs2244380 0.80823
NM_001008212.2(OPTN):c.1613-48C>A rs10906310 0.24936
NM_001008212.2(OPTN):c.626+24G>A rs11258211 0.03152
NM_001008212.2(OPTN):c.553-10G>A rs11258210 0.00492
NM_001008212.2(OPTN):c.876G>A (p.Pro292=) rs151065414 0.00118
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_001008212.2(OPTN):c.1559G>A (p.Arg520His) rs200088838 0.00033
NM_001008212.2(OPTN):c.909C>A (p.Asn303Lys) rs200114679 0.00015
NM_001008212.2(OPTN):c.779+10A>G rs200899194 0.00011
NM_001008212.2(OPTN):c.1588C>A (p.Gln530Lys) rs759605171 0.00004
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) rs774258585 0.00004
NM_001008212.2(OPTN):c.597T>C (p.Pro199=) rs373699827 0.00004
NM_001008212.2(OPTN):c.1525G>A (p.Gly509Arg) rs182957382 0.00003
NM_001008212.2(OPTN):c.1324C>T (p.Leu442=) rs367641761 0.00002
NM_001008212.2(OPTN):c.513C>T (p.Ser171=) rs369760173 0.00002
NM_001008212.2(OPTN):c.447G>A (p.Arg149=) rs555741399 0.00001
NM_001008212.2(OPTN):c.628G>A (p.Ala210Thr) rs778855963 0.00001
NM_001008212.2(OPTN):c.1003C>T (p.Gln335Ter)
NM_001008212.2(OPTN):c.1107A>G (p.Leu369=) rs149806984
NM_001008212.2(OPTN):c.1204_1210del (p.Asn401_Asn402insTer)
NM_001008212.2(OPTN):c.1568C>A (p.Ala523Glu)
NM_001008212.2(OPTN):c.1597T>G (p.Tyr533Asp)
NM_001008212.2(OPTN):c.1627_1628delinsCT (p.Asp543Leu) rs2131535039
NM_001008212.2(OPTN):c.370-14C>G rs886038367
NM_001008212.2(OPTN):c.402C>T (p.Ala134=)
NM_001008212.2(OPTN):c.404A>C (p.Glu135Ala) rs372714385
NM_001008212.2(OPTN):c.536T>C (p.Val179Ala)
NM_001008212.2(OPTN):c.553-4A>T
NM_001008212.2(OPTN):c.553-6T>G
NM_001008212.2(OPTN):c.570G>T (p.Gly190=)
NM_001008212.2(OPTN):c.608G>C (p.Arg203Thr)
NM_001008212.2(OPTN):c.749T>C (p.Leu250Pro)
NM_001008212.2(OPTN):c.768G>A (p.Glu256=)

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