ClinVar Miner

List of variants reported as benign for megaloblastic anemia by Genome-Nilou Lab

Included ClinVar conditions (12):
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ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835 0.99996
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712 0.99748
NM_001081.4(CUBN):c.593+33dup rs11409967 0.95095
NM_001081.4(CUBN):c.594-34G>A rs2295813 0.91875
NM_001081.4(CUBN):c.123-16C>G rs2281648 0.87635
NM_001081.4(CUBN):c.2791+9C>T rs10795440 0.85809
NM_001081.4(CUBN):c.6463-22A>C rs1276713 0.83410
NM_001081.4(CUBN):c.7912+25T>C rs780807 0.76044
NM_001081.4(CUBN):c.10180+30A>G rs703062 0.75316
NM_001081.4(CUBN):c.4563T>A (p.Ile1521=) rs1801229 0.73095
NM_001081.4(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231 0.73090
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser) rs1801222 0.72079
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=) rs703064 0.70381
NM_206965.2(FTCD):c.*108G>A rs12774 0.63657
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr) rs1801224 0.57919
NC_000003.12:g.124730444A>G rs1139538 0.54345
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=) rs1801234 0.50897
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
NM_001081.4(CUBN):c.939C>T (p.Asn313=) rs1801223 0.21191
NM_001081.4(CUBN):c.5343-8C>A rs2271463 0.19092
NM_000373.4(UMPS):c.1320C>T (p.Gly440=) rs13146 0.17670
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019 0.17658
NM_006996.3(SLC19A2):c.-4C>T rs2072757 0.16749
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=) rs1801241 0.16648
NM_001081.4(CUBN):c.4970-22A>C rs74668791 0.13460
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305 0.13356
NM_001081.4(CUBN):c.618C>T (p.Tyr206=) rs41289313 0.06126
NM_001081.4(CUBN):c.1245T>C (p.Gly415=) rs12571671 0.05965
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=) rs1801228 0.02872
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168 0.02019
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460 0.00803
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.4(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_206965.2(FTCD):c.1392C>G (p.Ala464=) rs1047179

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