List of variants reported as uncertain significance for combined malonic and methylmalonic acidemia

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

Total variants: 164

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HGVS	dbSNP	gnomAD frequency
NM_001243279.3(ACSF3):c.823-4G>C	rs558325262	0.00067
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=)	rs140941507	0.00061
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)	rs370382601	0.00053
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)	rs375374971	0.00031
NM_001243279.3(ACSF3):c.1502-4G>A	rs111414659	0.00024
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)	rs140986055	0.00022
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=)	rs539500659	0.00020
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)	rs138680796	0.00019
NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu)	rs781425127	0.00019
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met)	rs145141190	0.00019
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=)	rs147915828	0.00018
NM_001243279.3(ACSF3):c.1613+3A>C	rs373631805	0.00018
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)	rs202182978	0.00016
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser)	rs200703917	0.00016
NM_001243279.3(ACSF3):c.1613+8T>G	rs1358602745	0.00014
NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys)	rs756279730	0.00014
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=)	rs200146632	0.00013
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu)	rs139520739	0.00012
NM_001243279.3(ACSF3):c.796A>G (p.Met266Val)	rs141607995	0.00012
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys)	rs141518662	0.00011
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala)	rs201953109	0.00011
NM_001243279.3(ACSF3):c.1127-5T>C	rs200245960	0.00010
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)	rs368696141	0.00010
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)	rs145285434	0.00009
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val)	rs545886514	0.00009
NM_001243279.3(ACSF3):c.391G>A (p.Ala131Thr)	rs144411003	0.00009
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=)	rs150374081	0.00009
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr)	rs759448696	0.00007
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val)	rs148768970	0.00007
NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn)	rs774006607	0.00006
NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu)	rs780364085	0.00005
NM_001243279.3(ACSF3):c.194G>A (p.Arg65His)	rs745633046	0.00005
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)	rs570233664	0.00005
NM_001243279.3(ACSF3):c.1084A>T (p.Met362Leu)	rs560149696	0.00004
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His)	rs144711526	0.00004
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=)	rs766713747	0.00004
NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met)	rs200029061	0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)	rs147538370	0.00004
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)	rs761852278	0.00004
NM_001243279.3(ACSF3):c.16G>C (p.Val6Leu)	rs776314400	0.00004
NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val)	rs142633119	0.00004
NM_001243279.3(ACSF3):c.1721dup (p.His574fs)	rs768886326	0.00004
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu)	rs377732201	0.00004
NM_001243279.3(ACSF3):c.666+9C>T	rs767663198	0.00004
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=)	rs377354800	0.00004
NM_001243279.3(ACSF3):c.936C>T (p.His312=)	rs202119269	0.00004
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=)	rs375187216	0.00003
NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln)	rs751551226	0.00003
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)	rs754161182	0.00003
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His)	rs200352879	0.00003
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)	rs563580010	0.00002
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)	rs747338200	0.00002
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn)	rs145969050	0.00002
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys)	rs901081235	0.00002
NM_001243279.3(ACSF3):c.480C>T (p.Val160=)	rs375671065	0.00002
NM_001243279.3(ACSF3):c.1004T>A (p.Leu335Gln)	rs1358680743	0.00001
NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu)	rs779630954	0.00001
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr)	rs1184733927	0.00001
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg)	rs142288136	0.00001
NM_001243279.3(ACSF3):c.1127-7C>G	rs761564953	0.00001
NM_001243279.3(ACSF3):c.1343C>G (p.Thr448Ser)	rs554194567	0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)	rs387907119	0.00001
NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His)	rs776369896	0.00001
NM_001243279.3(ACSF3):c.1495A>C (p.Ile499Leu)	rs1272786593	0.00001
NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly)	rs780402535	0.00001
NM_001243279.3(ACSF3):c.221G>A (p.Arg74His)	rs750707295	0.00001
NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp)	rs754782061	0.00001
NM_001243279.3(ACSF3):c.365C>T (p.Ala122Val)	rs1441479986	0.00001
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe)	rs774006659	0.00001
NM_001243279.3(ACSF3):c.589G>A (p.Ala197Thr)	rs761573352	0.00001
NM_001243279.3(ACSF3):c.673G>A (p.Gly225Arg)	rs775694971	0.00001
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser)	rs1975498120	0.00001
NC_000016.10:g.(?_89100662)_(89154227_?)dup
NC_000016.9:g.(?_89167070)_(89187341_?)dup
NC_000016.9:g.(?_89167090)_(89187341_?)dup
NC_000016.9:g.(?_89211655)_(89220615_?)dup
NM_001243279.3(ACSF3):c.-8T>A	rs1210097201
NM_001243279.3(ACSF3):c.1016T>C (p.Val339Ala)
NM_001243279.3(ACSF3):c.1052T>C (p.Leu351Pro)
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp)	rs761084443
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile)	rs387907120
NM_001243279.3(ACSF3):c.110T>A (p.Val37Glu)
NM_001243279.3(ACSF3):c.1117C>G (p.Arg373Gly)	rs144907664
NM_001243279.3(ACSF3):c.1117C>T (p.Arg373Cys)
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro)	rs1904713918
NM_001243279.3(ACSF3):c.1126+5G>A
NM_001243279.3(ACSF3):c.1126+5G>C
NM_001243279.3(ACSF3):c.1145T>C (p.Leu382Pro)	rs781134234
NM_001243279.3(ACSF3):c.1162C>T (p.Arg388Cys)
NM_001243279.3(ACSF3):c.11A>G (p.His4Arg)
NM_001243279.3(ACSF3):c.1280T>C (p.Val427Ala)
NM_001243279.3(ACSF3):c.1292C>A (p.Ser431Tyr)	rs1057520194
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro)	rs137995833
NM_001243279.3(ACSF3):c.1367-464C>T	rs2151560692
NM_001243279.3(ACSF3):c.1376T>C (p.Val459Ala)
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
NM_001243279.3(ACSF3):c.1402A>C (p.Ile468Leu)
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)	rs144681140
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu)	rs377596983
NM_001243279.3(ACSF3):c.1494C>G (p.Ser498Arg)
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val)	rs1187720594
NM_001243279.3(ACSF3):c.1500A>G (p.Thr500=)
NM_001243279.3(ACSF3):c.1501+4C>T
NM_001243279.3(ACSF3):c.1516G>A (p.Gly506Arg)
NM_001243279.3(ACSF3):c.1535G>T (p.Trp512Leu)	rs1450563045
NM_001243279.3(ACSF3):c.1555G>A (p.Val519Met)
NM_001243279.3(ACSF3):c.159T>G (p.Phe53Leu)
NM_001243279.3(ACSF3):c.1607G>C (p.Trp536Ser)	rs779820462
NM_001243279.3(ACSF3):c.1618G>C (p.Val540Leu)	rs570670205
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)	rs140328142
NM_001243279.3(ACSF3):c.1711A>G (p.Arg571Gly)	rs1448355025
NM_001243279.3(ACSF3):c.1715A>C (p.His572Pro)
NM_001243279.3(ACSF3):c.1720del (p.His574fs)
NM_001243279.3(ACSF3):c.198C>G (p.His66Gln)
NM_001243279.3(ACSF3):c.200C>T (p.Thr67Met)
NM_001243279.3(ACSF3):c.217T>C (p.Ser73Pro)
NM_001243279.3(ACSF3):c.220C>T (p.Arg74Cys)
NM_001243279.3(ACSF3):c.243G>C (p.Glu81Asp)
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys)	rs373476048
NM_001243279.3(ACSF3):c.278T>G (p.Leu93Arg)
NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp)	rs530503915
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser)	rs1299639090
NM_001243279.3(ACSF3):c.315_316delinsCT (p.Ala106Ser)	rs2151406892
NM_001243279.3(ACSF3):c.328G>A (p.Val110Met)
NM_001243279.3(ACSF3):c.32G>T (p.Arg11Leu)	rs781163359
NM_001243279.3(ACSF3):c.335A>C (p.Gln112Pro)
NM_001243279.3(ACSF3):c.371C>G (p.Pro124Arg)	rs1292276846
NM_001243279.3(ACSF3):c.399G>C (p.Gln133His)	rs370968781
NM_001243279.3(ACSF3):c.414C>G (p.Ile138Met)
NM_001243279.3(ACSF3):c.428G>T (p.Ser143Ile)
NM_001243279.3(ACSF3):c.44C>A (p.Ala15Asp)
NM_001243279.3(ACSF3):c.473C>T (p.Pro158Leu)
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu)	rs747228733
NM_001243279.3(ACSF3):c.49G>A (p.Ala17Thr)
NM_001243279.3(ACSF3):c.538G>C (p.Glu180Gln)
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys)	rs1567685421
NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu)	rs376098216
NM_001243279.3(ACSF3):c.58C>T (p.Arg20Trp)
NM_001243279.3(ACSF3):c.623G>A (p.Arg208Lys)
NM_001243279.3(ACSF3):c.628A>C (p.Lys210Gln)	rs538548478
NM_001243279.3(ACSF3):c.638T>C (p.Leu213Pro)
NM_001243279.3(ACSF3):c.667-9C>T	rs369865917
NM_001243279.3(ACSF3):c.671C>T (p.Thr224Ile)
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp)	rs1597898108
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr)	rs765454020
NM_001243279.3(ACSF3):c.709G>A (p.Val237Met)
NM_001243279.3(ACSF3):c.743A>G (p.His248Arg)
NM_001243279.3(ACSF3):c.746G>A (p.Gly249Asp)
NM_001243279.3(ACSF3):c.755A>G (p.Asn252Ser)
NM_001243279.3(ACSF3):c.755A>T (p.Asn252Ile)
NM_001243279.3(ACSF3):c.757G>A (p.Ala253Thr)
NM_001243279.3(ACSF3):c.758C>A (p.Ala253Glu)
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala)	rs1277612080
NM_001243279.3(ACSF3):c.799A>G (p.Met267Val)
NM_001243279.3(ACSF3):c.845C>G (p.Ser282Cys)
NM_001243279.3(ACSF3):c.851C>T (p.Thr284Met)
NM_001243279.3(ACSF3):c.856C>T (p.Arg286Trp)
NM_001243279.3(ACSF3):c.862A>G (p.Asn288Asp)
NM_001243279.3(ACSF3):c.880C>T (p.Pro294Ser)
NM_001243279.3(ACSF3):c.915C>G (p.Asp305Glu)
NM_001243279.3(ACSF3):c.91C>T (p.Leu31Phe)	rs1975195262
NM_001243279.3(ACSF3):c.92T>C (p.Leu31Pro)
NM_001243279.3(ACSF3):c.952C>A (p.Arg318Ser)
NM_001243279.3(ACSF3):c.952C>T (p.Arg318Cys)

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