ClinVar Miner

List of variants reported as benign for anemia due to enzyme disorder by Invitae

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001365304.2(LOC112694756):c.*489-63G>C rs9783783 0.52268
NM_001360016.2(G6PD):c.*357= rs1050757 0.36655
G6PD:c.1455-13T>C rs2071429 0.36538
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_001365304.2(LOC112694756):c.*1508+17G>T rs2071390 0.13976
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
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_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
NM_001365304.2(LOC112694756):c.*889-16C>A rs78124282 0.00797
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00362
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) rs181277621 0.00081
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_000289.6(PFKM):c.1004T>C (p.Val335Ala) rs201838518 0.00062
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) rs147131392 0.00062
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=) rs111252736 0.00022
NM_001360016.2(G6PD):c.486-14C>T rs200833520 0.00020
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=) rs200761497 0.00019
NM_001360016.2(G6PD):c.864+17A>T rs377041776 0.00019
NM_000289.6(PFKM):c.844-17T>A rs372870462 0.00018
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_000289.6(PFKM):c.2040C>T (p.Gly680=) rs369893708 0.00009
NM_001360016.2(G6PD):c.120+7A>C rs369904290 0.00008
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_000289.6(PFKM):c.1401T>C (p.Leu467=) rs554664722 0.00001
NM_000289.6(PFKM):c.1063-5del
NM_000289.6(PFKM):c.1063-5dup
NM_000289.6(PFKM):c.1341+8del rs2135995386
NM_000289.6(PFKM):c.1413-19G>A
NM_000289.6(PFKM):c.1881-17del
NM_000289.6(PFKM):c.1992+14C>A
NM_000289.6(PFKM):c.2092+10del
NM_000289.6(PFKM):c.85+22dup
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.486-34del rs3216174
NM_001360016.2(G6PD):c.645-8_645-5del rs782160396
NM_001365304.2(LOC112694756):c.*1308+17T>C rs566755208
NM_001365304.2(LOC112694756):c.*833+17C>G rs78209292

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