ClinVar Miner

List of variants studied for hematologic disorder by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000174.5(GP9):c.466G>A (p.Ala156Thr) rs3796130 0.01277
NM_001321759.2(CDIN1):c.707A>G (p.Tyr236Cys) rs768744226 0.00002
NM_001282933.2(ZNF341):c.904C>T (p.Arg302Ter) rs746141726 0.00001
NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser) rs587777101 0.00001
NM_001282933.2(ZNF341):c.1156C>T (p.Arg386Ter) rs982121798
NM_001282933.2(ZNF341):c.1647C>G (p.Tyr549Ter) rs376598954
NM_001282933.2(ZNF341):c.583C>T (p.Gln195Ter) rs1568940507
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) rs587777101
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) rs587777100
NM_001321759.2(CDIN1):c.59C>G (p.Pro20Arg) rs1595696464
NM_001321759.2(CDIN1):c.689A>C (p.His230Pro) rs1595503440
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn) rs1556323334
NM_003120.3(SPI1):c.328C>T (p.Gln110Ter) rs2142884393
NM_003120.3(SPI1):c.363C>A (p.Tyr121Ter) rs2095916574
NM_003120.3(SPI1):c.632A>C (p.His211Pro) rs2095906547
NM_003120.3(SPI1):c.722T>G (p.Val241Gly) rs2095906404
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_148923.4(CYB5A):c.131A>T (p.His44Leu) rs1555688659
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter) rs1555691399

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