ClinVar Miner

List of variants studied for benign endocrine neoplasm by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000244.3(MEN1):c.371_372del (p.Val124fs) rs1555166368
NM_000244.3(MEN1):c.669+1del rs1057518903
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)
NM_015074.3(KIF1B):c.2473G>A (p.Glu825Lys) rs763122049

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