ClinVar Miner

List of variants reported as likely benign for amyotrophic lateral sclerosis type 12 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_001008212.2(OPTN):c.606G>A (p.Thr202=) rs143437860 0.00038
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.883-17G>T rs561692004 0.00009
NM_001008212.2(OPTN):c.1401+21C>G rs553828705 0.00006
NM_001008212.2(OPTN):c.597T>C (p.Pro199=) rs373699827 0.00004
NM_001008212.2(OPTN):c.883-9G>A rs372118360 0.00004
NM_001008212.2(OPTN):c.1533-10G>A rs202006990 0.00003
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) rs771316696 0.00003
NM_001008212.2(OPTN):c.1713C>T (p.His571=) rs187326591 0.00003
NM_001008212.2(OPTN):c.219G>A (p.Ser73=) rs1430621754 0.00003
NM_001008212.2(OPTN):c.448C>T (p.Leu150=) rs768270236 0.00003
NM_001008212.2(OPTN):c.1324C>T (p.Leu442=) rs367641761 0.00002
NM_001008212.2(OPTN):c.1428T>C (p.His476=) rs767738080 0.00002
NM_001008212.2(OPTN):c.480C>T (p.Ile160=) rs146593599 0.00002
NM_001008212.2(OPTN):c.513C>T (p.Ser171=) rs369760173 0.00002
NM_001008212.2(OPTN):c.718C>T (p.Leu240=) rs372486382 0.00002
NM_001008212.2(OPTN):c.1038A>T (p.Ser346=) rs181131178 0.00001
NM_001008212.2(OPTN):c.1372C>T (p.Leu458=) rs760304751 0.00001
NM_001008212.2(OPTN):c.1612+9C>T rs763985749 0.00001
NM_001008212.2(OPTN):c.444G>A (p.Val148=) rs780011442 0.00001
NM_001008212.2(OPTN):c.528T>C (p.Asp176=) rs754892837 0.00001
NM_001008212.2(OPTN):c.891C>T (p.Ser297=) rs200169099 0.00001
NM_001008212.2(OPTN):c.1071T>C (p.Thr357=)
NM_001008212.2(OPTN):c.1107A>G (p.Leu369=) rs149806984
NM_001008212.2(OPTN):c.1128G>A (p.Gln376=)
NM_001008212.2(OPTN):c.1149-13T>A
NM_001008212.2(OPTN):c.1243-11T>G
NM_001008212.2(OPTN):c.1243-4T>G
NM_001008212.2(OPTN):c.1269G>A (p.Leu423=)
NM_001008212.2(OPTN):c.1320A>G (p.Lys440=)
NM_001008212.2(OPTN):c.1386C>T (p.Thr462=)
NM_001008212.2(OPTN):c.1401+9C>T
NM_001008212.2(OPTN):c.1443G>A (p.Ala481=)
NM_001008212.2(OPTN):c.1532+14A>G
NM_001008212.2(OPTN):c.156C>T (p.His52=)
NM_001008212.2(OPTN):c.1612+17C>A
NM_001008212.2(OPTN):c.1612+17C>T
NM_001008212.2(OPTN):c.1613-13T>C
NM_001008212.2(OPTN):c.1642C>A (p.Arg548=) rs767360238
NM_001008212.2(OPTN):c.1653G>T (p.Pro551=)
NM_001008212.2(OPTN):c.1674T>C (p.Cys558=) rs1833710699
NM_001008212.2(OPTN):c.1722T>C (p.Asp574=)
NM_001008212.2(OPTN):c.213G>A (p.Glu71=)
NM_001008212.2(OPTN):c.261G>A (p.Glu87=) rs749333165
NM_001008212.2(OPTN):c.369+11C>G
NM_001008212.2(OPTN):c.369+11C>T
NM_001008212.2(OPTN):c.369+12G>A
NM_001008212.2(OPTN):c.370-13T>C rs1410187067
NM_001008212.2(OPTN):c.408G>A (p.Ala136=)
NM_001008212.2(OPTN):c.435C>T (p.Thr145=) rs1042488570
NM_001008212.2(OPTN):c.490C>T (p.Leu164=)
NM_001008212.2(OPTN):c.552+11G>C rs1015367767
NM_001008212.2(OPTN):c.553-12C>T
NM_001008212.2(OPTN):c.553-17C>T
NM_001008212.2(OPTN):c.582A>G (p.Glu194=)
NM_001008212.2(OPTN):c.612A>G (p.Thr204=) rs1588441388
NM_001008212.2(OPTN):c.626+17T>A
NM_001008212.2(OPTN):c.626+18C>T
NM_001008212.2(OPTN):c.627-16C>T
NM_001008212.2(OPTN):c.633G>A (p.Leu211=)
NM_001008212.2(OPTN):c.675C>T (p.Tyr225=)
NM_001008212.2(OPTN):c.678C>T (p.Phe226=) rs560438634
NM_001008212.2(OPTN):c.729G>T (p.Gly243=)
NM_001008212.2(OPTN):c.759A>C (p.Ala253=)
NM_001008212.2(OPTN):c.762C>T (p.Leu254=)
NM_001008212.2(OPTN):c.78C>T (p.His26=) rs1588433321
NM_001008212.2(OPTN):c.804A>C (p.Thr268=)
NM_001008212.2(OPTN):c.822T>A (p.Ile274=) rs747912539
NM_001008212.2(OPTN):c.843C>T (p.Ser281=)
NM_001008212.2(OPTN):c.882+19C>T
NM_001008212.2(OPTN):c.882+20G>A
NM_001008212.2(OPTN):c.883-10C>T
NM_001008212.2(OPTN):c.883-6T>C rs1588446686
NM_001008212.2(OPTN):c.924T>G (p.Ser308=)
NM_001008212.2(OPTN):c.94C>T (p.Leu32=)
NM_001008212.2(OPTN):c.998+18A>G rs1833410378
NM_001008212.2(OPTN):c.998+19T>C rs1833410442
NM_001008212.2(OPTN):c.999-16T>C
NM_001008212.2(OPTN):c.999-20G>A

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