ClinVar Miner

List of variants studied for Knobloch syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.2379+7C>T rs202100967 0.00379
NM_001379500.1(COL18A1):c.3317G>A (p.Arg1106Gln) rs752092795 0.00003
NM_001379500.1(COL18A1):c.3310_3311delinsTG (p.Pro1104Trp) rs2146119886
NM_001379500.1(COL18A1):c.3532_3533del (p.Gly1178fs) rs2037488871

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