ClinVar Miner

List of variants reported as likely pathogenic for familial hemolytic anemia by Revvity Omics, Revvity

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349 0.00002
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys) rs782090947 0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00002
NM_000175.5(GPI):c.1648A>G (p.Lys550Glu) rs933668811 0.00001
NM_000289.6(PFKM):c.1500+1G>A rs770066278 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_001114134.2(EPB42):c.1501del (p.Ser501fs) rs777764528 0.00001
G6PD NARA rs587776730
NM_000037.4(ANK1):c.1124del (p.Leu375fs)
NM_000037.4(ANK1):c.1282dup (p.Ala428fs)
NM_000037.4(ANK1):c.1381_1382del (p.Ala461fs)
NM_000037.4(ANK1):c.1405-9G>A
NM_000037.4(ANK1):c.1452del (p.Asn484fs) rs2150635459
NM_000037.4(ANK1):c.1488dup (p.Asn497fs)
NM_000037.4(ANK1):c.1537G>T (p.Glu513Ter)
NM_000037.4(ANK1):c.1585C>T (p.Gln529Ter)
NM_000037.4(ANK1):c.1675del (p.Asp559fs)
NM_000037.4(ANK1):c.1702-2A>G rs1554567249
NM_000037.4(ANK1):c.1709del (p.Leu570fs)
NM_000037.4(ANK1):c.1779_1800+1dup
NM_000037.4(ANK1):c.1781_1794del (p.Ser594fs) rs2150631832
NM_000037.4(ANK1):c.1784dup (p.His596fs)
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.1895C>A (p.Ser632Ter) rs749423708
NM_000037.4(ANK1):c.1900C>T (p.Gln634Ter)
NM_000037.4(ANK1):c.1930C>T (p.Gln644Ter)
NM_000037.4(ANK1):c.1933G>T (p.Glu645Ter)
NM_000037.4(ANK1):c.1972C>T (p.Gln658Ter)
NM_000037.4(ANK1):c.2023dup (p.Val675fs)
NM_000037.4(ANK1):c.2148_2157del (p.Val717fs)
NM_000037.4(ANK1):c.2296-1G>A
NM_000037.4(ANK1):c.2320_2350del (p.Ala774fs)
NM_000037.4(ANK1):c.2389-2A>G
NM_000037.4(ANK1):c.2485del (p.Ala829fs)
NM_000037.4(ANK1):c.2558+2T>C rs2150602525
NM_000037.4(ANK1):c.2681del (p.Pro894fs)
NM_000037.4(ANK1):c.2764del (p.Arg922fs)
NM_000037.4(ANK1):c.2768del (p.Gly923fs) rs2150597126
NM_000037.4(ANK1):c.2823del (p.Thr942fs)
NM_000037.4(ANK1):c.2960+1G>A rs2150596703
NM_000037.4(ANK1):c.2961-2A>G rs2150594692
NM_000037.4(ANK1):c.3050G>A (p.Trp1017Ter)
NM_000037.4(ANK1):c.3123del (p.Ser1042fs)
NM_000037.4(ANK1):c.3123dup (p.Ser1042fs)
NM_000037.4(ANK1):c.3150_3151insAAGG (p.Val1051fs)
NM_000037.4(ANK1):c.3196_3199dup (p.Ser1067fs)
NM_000037.4(ANK1):c.341C>T (p.Pro114Leu)
NM_000037.4(ANK1):c.3493_3496dup (p.Asp1166fs)
NM_000037.4(ANK1):c.3533-2A>G
NM_000037.4(ANK1):c.3550C>T (p.Gln1184Ter)
NM_000037.4(ANK1):c.3563_3564del (p.Ile1188fs)
NM_000037.4(ANK1):c.3623_3624del (p.Ser1208fs) rs1586144223
NM_000037.4(ANK1):c.3630-1G>A
NM_000037.4(ANK1):c.3777C>G (p.Tyr1259Ter)
NM_000037.4(ANK1):c.3841del (p.Arg1281fs)
NM_000037.4(ANK1):c.3859-2A>G
NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs)
NM_000037.4(ANK1):c.3928C>T (p.Gln1310Ter) rs2150586181
NM_000037.4(ANK1):c.3954del (p.Arg1319fs)
NM_000037.4(ANK1):c.4092_4101del (p.Pro1365fs)
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) rs2150661792
NM_000037.4(ANK1):c.4184-2A>G
NM_000037.4(ANK1):c.4259-1G>T
NM_000037.4(ANK1):c.4267del (p.Arg1423fs)
NM_000037.4(ANK1):c.4390+1G>A rs2150580336
NM_000037.4(ANK1):c.4391-1G>C
NM_000037.4(ANK1):c.441_466del (p.Pro147_Leu148insTer)
NM_000037.4(ANK1):c.4492_4493del (p.Arg1498fs)
NM_000037.4(ANK1):c.4529del (p.Gln1510fs)
NM_000037.4(ANK1):c.4599_4600del (p.Pro1534fs)
NM_000037.4(ANK1):c.4771G>T (p.Glu1591Ter)
NM_000037.4(ANK1):c.4779_4780del (p.Asp1594fs)
NM_000037.4(ANK1):c.47_50del (p.Ser15_Phe16insTer)
NM_000037.4(ANK1):c.4813del (p.Ala1605fs) rs2150563125
NM_000037.4(ANK1):c.4835_4847del (p.Gly1612fs)
NM_000037.4(ANK1):c.4835del (p.Gly1612fs) rs2150563078
NM_000037.4(ANK1):c.4886del (p.Asp1629fs)
NM_000037.4(ANK1):c.500dup (p.Thr168fs)
NM_000037.4(ANK1):c.5026del (p.His1676fs)
NM_000037.4(ANK1):c.5076dup (p.Thr1693fs)
NM_000037.4(ANK1):c.5096+2T>G
NM_000037.4(ANK1):c.511_541del (p.Lys171fs)
NM_000037.4(ANK1):c.5164del (p.Gln1722fs)
NM_000037.4(ANK1):c.5323_5324del (p.Arg1775fs)
NM_000037.4(ANK1):c.5374_5375del (p.Thr1792fs)
NM_000037.4(ANK1):c.547_559del (p.Asn183fs)
NM_000037.4(ANK1):c.5500C>T (p.Gln1834Ter)
NM_000037.4(ANK1):c.557del (p.Thr186fs)
NM_000037.4(ANK1):c.612+1G>C
NM_000037.4(ANK1):c.613-1G>A
NM_000037.4(ANK1):c.6dup (p.Tyr3fs)
NM_000037.4(ANK1):c.712-2A>T rs2150653010
NM_000037.4(ANK1):c.725del (p.Pro242fs) rs2150652933
NM_000037.4(ANK1):c.810+1G>A
NM_000037.4(ANK1):c.86del (p.Leu29fs)
NM_000037.4(ANK1):c.910-2A>G
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) rs121917734
NM_000175.5(GPI):c.1498_1501del (p.Val500fs)
NM_000175.5(GPI):c.937_952dup (p.Val318fs)
NM_000289.6(PFKM):c.238-3A>G
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) rs137852323
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000476.3(AK1):c.319C>T (p.Arg107Ter) rs104894102
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) rs1557229599
NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu)
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) rs78365220
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890
NM_001376013.1(EPB41):c.1175del (p.Lys392fs) rs2150273700
NM_001376013.1(EPB41):c.1330dup (p.Arg444fs)
NM_001376013.1(EPB41):c.1660C>T (p.Arg554Ter)
NM_001376013.1(EPB41):c.2085_2089del (p.Val696fs)
NM_001376013.1(EPB41):c.712C>T (p.Arg238Ter) rs1160118901
NM_001386140.1(MTTP):c.2329C>T (p.Arg777Ter) rs777548973
NM_002250.3(KCNN4):c.844G>A (p.Val282Met) rs1057519076
NM_002250.3(KCNN4):c.845T>A (p.Val282Glu) rs1057519077
NM_138477.4(CDAN1):c.230del (p.Gly77fs)
NM_138477.4(CDAN1):c.2403dup (p.Ile802fs)
NM_138477.4(CDAN1):c.788del (p.Gln263fs)

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