ClinVar Miner

List of variants studied for 3-Methylglutaconic aciduria type 3 by Natera, Inc.

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732 0.00477
NM_025136.4(OPA3):c.249G>C (p.Leu83=) rs199692583 0.00080
NM_025136.4(OPA3):c.428C>T (p.Ala143Val) rs553598004 0.00006
NM_025136.4(OPA3):c.143-5C>A rs770452409 0.00003
NM_025136.4(OPA3):c.15G>C (p.Ala5=) rs763315476 0.00002
NM_025136.4(OPA3):c.214A>G (p.Asn72Asp) rs1382779104 0.00001
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr) rs186796646 0.00001
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter) rs80356525 0.00001
NM_025136.4(OPA3):c.416A>G (p.Gln139Arg) rs1399150102 0.00001
NM_025136.4(OPA3):c.471A>G (p.Gln157=) rs570940748 0.00001
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) rs1568413644 0.00001
NM_025136.4(OPA3):c.-7C>A
NM_025136.4(OPA3):c.13_20del (p.Ala5fs)
NM_025136.4(OPA3):c.142+5G>C rs1250409781
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.193G>A (p.Gly65Ser)
NM_025136.4(OPA3):c.1A>G (p.Met1Val) rs1230629432
NM_025136.4(OPA3):c.217dup (p.Glu73fs) rs1555732963
NM_025136.4(OPA3):c.246G>A (p.Glu82=) rs1599964759
NM_025136.4(OPA3):c.248_251dup (p.Gly85fs) rs1555732942
NM_025136.4(OPA3):c.298G>A (p.Glu100Lys)
NM_025136.4(OPA3):c.307C>G (p.Arg103Gly)
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_025136.4(OPA3):c.316G>A (p.Ala106Thr) rs750013718
NM_025136.4(OPA3):c.318_319dup (p.Gln107fs)
NM_025136.4(OPA3):c.32T>C (p.Leu11Pro)
NM_025136.4(OPA3):c.398T>C (p.Leu133Pro)
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro) rs372161100
NM_025136.4(OPA3):c.413C>T (p.Ala138Val)
NM_025136.4(OPA3):c.415_426del (p.Gln139_Ala142del)
NM_025136.4(OPA3):c.423G>A (p.Gln141=)
NM_025136.4(OPA3):c.439_440del (p.Gly147fs) rs1425399743
NM_025136.4(OPA3):c.443C>T (p.Ala148Val)
NM_025136.4(OPA3):c.458_459del (p.Arg153fs)
NM_025136.4(OPA3):c.472_494del (p.Glu158fs)
NM_025136.4(OPA3):c.475G>A (p.Val159Met)
NM_025136.4(OPA3):c.484C>T (p.Gln162Ter) rs747167154
NM_025136.4(OPA3):c.75C>T (p.Asn25=) rs2122529407

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