ClinVar Miner

List of variants reported as benign for 3-methylglutaconic aciduria by Invitae

Included ClinVar conditions (11):
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ClinVar version:
Total variants: 36
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HGVS dbSNP
NM_000116.4(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.4(TAZ):c.675G>A (p.Pro225=) rs201046790
NM_000116.4(TAZ):c.873G>A (p.Gly291=) rs35902788
NM_001081.3(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947
NM_001081.3(CUBN):c.10119C>A (p.Val3373=) rs139596037
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) rs141937843
NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) rs12259370
NM_001081.3(CUBN):c.2756A>G (p.His919Arg) rs148869805
NM_001081.3(CUBN):c.2791+6A>C rs78549445
NM_001081.3(CUBN):c.516C>T (p.Asn172=) rs576450214
NM_001081.3(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113
NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460
NM_001081.3(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389
NM_001081.3(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168
NM_001081.3(CUBN):c.8671G>A (p.Val2891Ile) rs150488625
NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) rs45551835
NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534
NM_001081.3(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284
NM_001081.3(CUBN):c.963C>T (p.Pro321=) rs150309054
NM_001081.3(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427
NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) rs74484860
NM_030813.5(CLPB):c.1086G>A (p.Arg362=) rs146912721
NM_030813.5(CLPB):c.1519C>T (p.Leu507=) rs77345581
NM_030813.5(CLPB):c.1625A>T (p.Glu542Val) rs373383193
NM_030813.5(CLPB):c.1950C>T (p.Arg650=) rs35401939
NM_030813.5(CLPB):c.2083C>T (p.Arg695Trp) rs141383303
NM_030813.5(CLPB):c.661G>A (p.Gly221Ser) rs150552809
NM_030813.5(CLPB):c.866-10C>G rs141271919
NM_030813.5(CLPB):c.884G>C (p.Arg295Thr) rs7938203
NM_030943.3(AMN):c.296-9C>T rs373204347
NM_030943.3(AMN):c.363G>A (p.Gly121=) rs141455061
NM_030943.3(AMN):c.829A>G (p.Thr277Ala) rs146499374
NM_145261.3(DNAJC19):c.285A>C (p.Gly95=) rs17850540
NM_145261.3(DNAJC19):c.69G>A (p.Leu23=) rs142023670

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