ClinVar Miner

List of variants reported as benign for hematologic disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_001142864.4(PIEZO1):c.6679G>A (p.Ala2227Thr) rs776039915 0.00005
NM_001754.5(RUNX1):c.1277_1278insCCCCCCCCCCC (p.Arg427fs) rs2056451263
NM_152564.5(VPS13B):c.9331_9332insTTTTTTTTTT (p.Tyr3111fs) rs757435621

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