ClinVar Miner

List of variants studied for cerebral cavernous malformation by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_007217.4(PDCD10):c.395+46C>T rs200959967 0.00353
NM_031443.4(CCM2):c.7G>T (p.Glu3Ter) rs1795541254
NM_194454.3(KRIT1):c.1268G>A (p.Arg423Gln) rs778239873
NM_194454.3(KRIT1):c.1959_1960insC (p.Lys654fs) rs2131307878
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly) rs137853139

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