ClinVar Miner

List of variants reported as likely pathogenic 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: 65
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HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.53G>A (p.Arg18His) rs905074313 0.00004
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000289.6(PFKM):c.1413-2A>G rs1430517061 0.00001
NM_000289.6(PFKM):c.1500+1G>A rs770066278 0.00001
NM_000289.6(PFKM):c.936+1G>A rs1949974650 0.00001
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp) rs1557229854 0.00001
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val) rs398124225 0.00001
NM_000289.6(PFKM):c.1062+1G>A
NM_000289.6(PFKM):c.1062+2T>C rs2135957798
NM_000289.6(PFKM):c.1127+1G>T rs2135976459
NM_000289.6(PFKM):c.1128-2A>G
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
NM_000289.6(PFKM):c.1192-2A>G
NM_000289.6(PFKM):c.1341+1G>C
NM_000289.6(PFKM):c.1342-1G>C
NM_000289.6(PFKM):c.1412+1G>A
NM_000289.6(PFKM):c.1412+1G>T
NM_000289.6(PFKM):c.1412+2T>C
NM_000289.6(PFKM):c.1501-2del rs1410122696
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000289.6(PFKM):c.1653+2T>G
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)
NM_000289.6(PFKM):c.1876_1880+2del
NM_000289.6(PFKM):c.1992+1G>T
NM_000289.6(PFKM):c.2047_2092+14del
NM_000289.6(PFKM):c.2092+2T>C
NM_000289.6(PFKM):c.238-3A>G
NM_000289.6(PFKM):c.594-1G>A
NM_000289.6(PFKM):c.638+1G>T
NM_000289.6(PFKM):c.936+2T>G
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg) rs137852344
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) rs137852346
NM_001243177.4(ALDOA):c.702+1G>A
NM_001243177.4(ALDOA):c.786+2T>C
NM_001243177.4(ALDOA):c.787-2A>G
NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys) rs2148328873
NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg)
NM_001360016.2(G6PD):c.1375C>T (p.Arg459Cys) rs2070346788
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His) rs72554665
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
NM_001360016.2(G6PD):c.403A>C (p.Asn135His)
NM_001360016.2(G6PD):c.404A>G (p.Asn135Ser)
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile) rs1557230573
NM_001360016.2(G6PD):c.464A>C (p.His155Pro)
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala)
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr) rs2070702973
NM_001360016.2(G6PD):c.962G>A (p.Gly321Glu)
NM_006363.6(SEC23B):c.1109+1G>C
NM_006363.6(SEC23B):c.1233_1233+1dup
NM_006363.6(SEC23B):c.1314+1G>A
NM_006363.6(SEC23B):c.1314_1314+10del
NM_006363.6(SEC23B):c.1404+5G>A rs1555789463
NM_006363.6(SEC23B):c.1511+2_1511+5del
NM_006363.6(SEC23B):c.1512-2A>T
NM_006363.6(SEC23B):c.1589G>A (p.Arg530Gln)
NM_006363.6(SEC23B):c.1905+1G>A
NM_006363.6(SEC23B):c.221+1G>A
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
NM_006363.6(SEC23B):c.2262del (p.Phe754fs)
NM_006363.6(SEC23B):c.279+1G>A
NM_006363.6(SEC23B):c.366+1G>A
NM_006363.6(SEC23B):c.367-1G>T
NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)

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