ClinVar Miner

List of variants studied for megaloblastic anemia by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.2791+130G>A rs4747297 0.86168
NM_000791.4(DHFR):c.-473T>C rs1650697 0.80068
NM_001081.4(CUBN):c.8905+137T>A rs780847 0.75177
NM_030943.4(AMN):c.1170-37C>G rs148815688 0.29891
NM_000791.4(DHFR):c.-400A>G rs2405875 0.02618
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) rs61049753 0.02028
NM_000791.4(DHFR):c.-416C>G rs2001675 0.00949
NM_000791.4(DHFR):c.-259C>T rs6151597 0.00658
NM_030943.4(AMN):c.363G>A (p.Gly121=) rs141455061 0.00632
NM_030943.4(AMN):c.773T>C (p.Leu258Ser) rs190222721 0.00544
NM_030943.4(AMN):c.829A>G (p.Thr277Ala) rs146499374 0.00428
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=) rs150548640 0.00374
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) rs17843776 0.00350
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682 0.00297
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484 0.00169
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu) rs61734338 0.00083
NM_006996.3(SLC19A2):c.1093A>T (p.Thr365Ser) rs150049339 0.00041
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915 0.00004
NM_000791.4(DHFR):c.-406CGCTGCAGC[1] rs758595508
NM_000791.4(DHFR):c.-418GGCCGCTGC[1] rs758960105
NM_000791.4(DHFR):c.-437GGGGCGCTG[3] rs60484572
NM_000791.4(DHFR):c.-442_-434del rs3045983
NM_002439.5(MSH3):c.162_179del (p.Ala57_Ala62del) rs201874762
NM_006996.3(SLC19A2):c.30GGC[5] (p.Ala16del)
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.4(AMN):c.44-7_44-5del rs774101952
NM_030943.4(AMN):c.514-34G>C rs144077391

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