ClinVar Miner

List of variants in gene OPTN reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.1149-86G>T rs676302 0.81133
NM_001008212.2(OPTN):c.553-5C>T rs2244380 0.80844
NM_001008212.2(OPTN):c.882+109A>G rs489040 0.53718
NM_001008212.2(OPTN):c.1612+101A>C rs7086894 0.31417
NM_001008212.2(OPTN):c.1402-253A>G rs3740209 0.27904
NM_001008212.2(OPTN):c.1612+279G>C rs7068612 0.27882
NM_001008212.2(OPTN):c.1613-48C>A rs10906310 0.25333
NM_001008212.2(OPTN):c.780-53T>C rs765884 0.24242
NM_001008212.2(OPTN):c.*1421T>G rs12415716 0.22947
NM_001008212.2(OPTN):c.1613-248C>T rs11594266 0.15692
NM_001008212.2(OPTN):c.779+201A>G rs568122 0.07268
NM_001008212.2(OPTN):c.882+196G>T rs59554572 0.04695
NM_001008212.2(OPTN):c.998+296G>C rs76703280 0.03314
NM_001008212.2(OPTN):c.626+24G>A rs11258211 0.03259
NM_001008212.2(OPTN):c.780-260A>T rs17512753 0.02892
NM_001008212.2(OPTN):c.779+274G>T rs75671979 0.02673
NM_001008212.2(OPTN):c.998+319T>G rs7072394 0.02418
NM_001008212.2(OPTN):c.779+124A>C rs678089 0.01523
NM_001008212.2(OPTN):c.553-10G>A rs11258210 0.00492
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_001008212.2(OPTN):c.780-54A>G rs770573293 0.00009
NM_001008212.2(OPTN):c.1242+259dup rs61018153
NM_001008212.2(OPTN):c.1243-233T>G rs10796028

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