ClinVar Miner

List of variants reported as benign for congenital nonspherocytic hemolytic anemia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001360016.2(G6PD):c.1365-13C>T rs2071429 0.63462
NM_001360016.2(G6PD):c.*357= rs1050757 0.36655
G6PD:c.1455-13T>C rs2071429 0.36538
NM_020897.3(HCN3):c.*1069C>T rs8847 0.35054
NM_000298.6(PKLR):c.*267C>T rs932972 0.35051
NM_000298.6(PKLR):c.1705C>A (p.Arg569=) rs1052176 0.35034
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015 0.14862
NM_001042351.2(G6PD):c.-111A>G rs111827785 0.14433
NM_001360016.2(G6PD):c.121-135A>G rs762515 0.10367
NM_000175.5(GPI):c.762G>A (p.Lys254=) rs1864139 0.09803
NM_001360016.2(G6PD):c.864+163C>T rs5986990 0.09646
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077 0.02424
NM_000175.5(GPI):c.122+20G>A rs8191360 0.02067
NM_000175.5(GPI):c.948C>A (p.Ala316=) rs8191416 0.01510
NM_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) rs181277621 0.00081
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) rs147131392 0.00062
NM_001360016.2(G6PD):c.486-14C>T rs200833520 0.00020
NM_001360016.2(G6PD):c.864+17A>T rs377041776 0.00019
NM_001360016.2(G6PD):c.381C>T (p.Ala127=) rs781997962 0.00017
NM_001360016.2(G6PD):c.519C>T (p.Phe173=) rs200111236 0.00010
NM_001360016.2(G6PD):c.120+7A>C rs369904290 0.00008
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn) rs5030870 0.00005
NM_001360016.2(G6PD):c.690C>T (p.Ile230=) rs781917123 0.00005
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 0.00002
NM_000175.5(GPI):c.1356G>C (p.Ala452=) rs34604585
NM_000175.5(GPI):c.751-5dup rs375313737
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_001360016.2(G6PD):c.*304T>C
NM_001360016.2(G6PD):c.107T>C (p.Ile36Thr)
NM_001360016.2(G6PD):c.120+199dup rs781893284
NM_001360016.2(G6PD):c.120+2955A>G
NM_001360016.2(G6PD):c.120+3126T>C
NM_001360016.2(G6PD):c.121-1792T>C
NM_001360016.2(G6PD):c.121-1813del
NM_001360016.2(G6PD):c.121-2107T>C
NM_001360016.2(G6PD):c.121-2679C>G
NM_001360016.2(G6PD):c.121-4460del
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1311T>C (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1398C>T (p.Thr466=) rs398123547
NM_001360016.2(G6PD):c.1422G>A (p.Leu474=)
NM_001360016.2(G6PD):c.445G>A (p.Ala149Thr)
NM_001360016.2(G6PD):c.486-34del rs3216174
NM_001360016.2(G6PD):c.645-8_645-5del rs782160396
NM_001360016.2(G6PD):c.[1116G>A;1311=]

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