ClinVar Miner

List of variants reported as benign for familial hemolytic anemia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.1233+9A>G rs6081189 0.91788
NM_001243177.4(ALDOA):c.142-63G>C rs9783783 0.52268
NM_001360016.2(G6PD):c.*357= rs1050757 0.36655
G6PD:c.1455-13T>C rs2071429 0.36538
NM_006363.6(SEC23B):c.1744-20T>A rs3736775 0.33572
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_001243177.4(ALDOA):c.1161+17G>T rs2071390 0.13976
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln) rs2273526 0.12707
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu) rs17807673 0.10334
NM_006363.6(SEC23B):c.1405-7C>T rs2273525 0.09089
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532 0.03235
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_006363.6(SEC23B):c.770C>T (p.Thr257Ile) rs146917730 0.01006
NM_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
NM_001243177.4(ALDOA):c.542-16C>A rs78124282 0.00797
NM_006363.6(SEC23B):c.834+116A>G rs113825530 0.00772
NM_006363.6(SEC23B):c.1743+168A>G rs111951711 0.00771
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=) rs147036760 0.00699
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His) rs141588462 0.00677
NM_006363.6(SEC23B):c.816T>C (p.Ile272=) rs115177758 0.00677
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459 0.00474
NM_006363.6(SEC23B):c.1404+20_1404+21del rs369173250 0.00378
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00362
NM_006363.6(SEC23B):c.221+76A>G rs183784857 0.00333
NM_006363.6(SEC23B):c.1666-148G>C rs116352690 0.00329
NM_006363.6(SEC23B):c.835-7A>G rs184484121 0.00317
NM_006363.6(SEC23B):c.993+19G>A rs144225458 0.00281
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
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_006363.6(SEC23B):c.367-17T>C rs77096313 0.00235
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_006363.6(SEC23B):c.689+10C>T rs200020725 0.00220
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_006363.6(SEC23B):c.993+10C>G rs201948587 0.00173
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_006363.6(SEC23B):c.66C>T (p.Asn22=) rs144542988 0.00098
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_006363.6(SEC23B):c.1993-16G>A rs375390042 0.00013
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_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840 0.00001
NC_000020.11:g.18507416A>G
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_001243177.4(ALDOA):c.486+17C>G rs78209292
NM_001243177.4(ALDOA):c.961+17T>C rs566755208
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_006363.6(SEC23B):c.1110-13dup
NM_006363.6(SEC23B):c.1744-17G>A
NM_006363.6(SEC23B):c.604-4del
NM_006363.6(SEC23B):c.604-4dup rs750339397
NM_006363.6(SEC23B):c.604-5_604-4dup rs750339397
NM_006363.6(SEC23B):c.604-6_604-4del

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