List of variants in gene OPA1 reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1681+23A>G	rs200416825	0.00174
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)	rs145565705	0.00103
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00056
NM_130837.3(OPA1):c.2610C>T (p.Thr870=)	rs139934030	0.00042
NM_130837.3(OPA1):c.2421G>T (p.Leu807=)	rs148047706	0.00041
NM_130837.3(OPA1):c.921C>T (p.Asp307=)	rs147242797	0.00029
NM_130837.3(OPA1):c.2088G>A (p.Ala696=)	rs138114609	0.00028
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp)	rs189036094	0.00021
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)	rs201520438	0.00017
NM_130837.3(OPA1):c.790-4T>A	rs374509936	0.00009
NM_130837.3(OPA1):c.1877G>A (p.Arg626His)	rs140606054	0.00006
NM_130837.3(OPA1):c.2520+13A>G	rs371943802	0.00004
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys)	rs749063844	0.00003
NM_130837.3(OPA1):c.33-8T>C	rs370303596	0.00003
NM_130837.3(OPA1):c.1398T>C (p.Ala466=)	rs886043473	0.00001
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg)	rs139106405	0.00001
NM_130837.3(OPA1):c.531C>A (p.Ser177Arg)	rs727504057	0.00001
NM_130837.3(OPA1):c.1097C>A (p.Ala366Asp)	rs398124302
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)	rs863224140
NM_130837.3(OPA1):c.1149G>T (p.Lys383Asn)	rs1560365123
NM_130837.3(OPA1):c.1323A>G (p.Val441=)	rs1014702193
NM_130837.3(OPA1):c.1377+5_1377+6delinsTC	rs797044639
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro)	rs1553877946
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser)	rs886043340
NM_130837.3(OPA1):c.1545_1547del (p.Arg516del)	rs1199056091
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del)	rs794727173
NM_130837.3(OPA1):c.1946T>C (p.Phe649Ser)	rs886042514
NM_130837.3(OPA1):c.2289_2306del (p.Ser763_Trp769delinsArg)	rs886043383
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser)	rs794726939
NM_130837.3(OPA1):c.2420T>C (p.Leu807Pro)	rs1560035790
NM_130837.3(OPA1):c.2441-4C>G	rs763386320
NM_130837.3(OPA1):c.604_605del (p.Leu202fs)	rs886043124
NM_130837.3(OPA1):c.610+360G>A	rs1553872542
NM_130837.3(OPA1):c.943C>G (p.Leu315Val)	rs866764665

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