ClinVar Miner

List of variants studied for tyrosinemia type III by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_002150.3(HPD):c.94-6A>T rs2707072 0.12768
NM_002150.3(HPD):c.338G>A (p.Arg113Gln) rs11833399 0.02263
NM_002150.3(HPD):c.1018G>T (p.Val340Leu) rs36023382 0.01235
NM_002150.3(HPD):c.345C>T (p.Ala115=) rs59741465 0.00670
NM_002150.3(HPD):c.15T>G (p.Ser5Arg) rs35849100 0.00625
NM_002150.3(HPD):c.414G>A (p.Thr138=) rs140788110 0.00479
NM_002150.3(HPD):c.498G>A (p.Met166Ile) rs149081239 0.00141
NM_002150.3(HPD):c.1005C>G (p.Ile335Met) rs137852868 0.00051
NM_002150.3(HPD):c.294C>T (p.Phe98=) rs117079110 0.00048
NM_002150.3(HPD):c.895C>T (p.Leu299=) rs144544907 0.00041
NM_002150.3(HPD):c.954+14A>C rs200866898 0.00039
NM_002150.3(HPD):c.*191C>T rs886049036 0.00038
NM_002150.3(HPD):c.*65A>G rs931600760 0.00007
NM_002150.3(HPD):c.836G>A (p.Arg279His) rs140144597 0.00005
NM_002150.3(HPD):c.914C>T (p.Thr305Met) rs200010805 0.00005
NM_002150.3(HPD):c.915G>A (p.Thr305=) rs751753975 0.00004
NM_002150.3(HPD):c.1108G>A (p.Ala370Thr) rs142321451 0.00003
NM_002150.2(HPD):c.*202T>A rs1352129485 0.00002
NM_002150.3(HPD):c.93+9C>T rs542121054 0.00002
NM_002150.3(HPD):c.765T>C (p.Tyr255=) rs767720774 0.00001
NM_002150.3(HPD):c.*190G>T rs942325148
NM_002150.3(HPD):c.*69C>T rs1592913492
NM_002150.3(HPD):c.*82T>C rs879205776
NM_002150.3(HPD):c.1061A>G (p.His354Arg) rs1877351328
NM_002150.3(HPD):c.1165G>C (p.Val389Leu) rs1404803313
NM_002150.3(HPD):c.211C>G (p.Leu71Val) rs886049037
NM_002150.3(HPD):c.518+3G>A rs1877698848
NM_002150.3(HPD):c.543C>T (p.Ile181=) rs756242095
NM_002150.3(HPD):c.92A>G (p.Gln31Arg) rs1878057534

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