ClinVar Miner

List of variants reported as uncertain significance for hematologic disorder by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000313.4(PROS1):c.1043C>T (p.Ala348Val) rs769125007 0.00007
NM_005334.3(HCFC1):c.2690C>T (p.Ala897Val) rs781971515 0.00001
NM_000037.4(ANK1):c.248A>C (p.His83Pro)
NM_000130.5(F5):c.6048+5G>T
NM_000312.4(PROC):c.718G>A (p.Ala240Thr) rs2104974763
NM_000312.4(PROC):c.874A>G (p.Ser292Gly)
NM_000312.4(PROC):c.92A>T (p.Glu31Val)
NM_000488.4(SERPINC1):c.1231G>C (p.Gly411Arg) rs2102773346
NM_000552.5(VWF):c.148A>G (p.Met50Val) rs2136535487
NM_000552.5(VWF):c.270A>C (p.Glu90Asp)
NM_000552.5(VWF):c.4652C>T (p.Pro1551Leu)
NM_000552.5(VWF):c.571T>G (p.Trp191Gly) rs2136500414
NM_000552.5(VWF):c.7448A>G (p.Tyr2483Cys) rs2136358654

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