ClinVar Miner

List of variants studied for Knobloch syndrome by Mendelics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.2683+702G>A rs114832456 0.11163
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg) rs79980197 0.07777
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NM_001379500.1(COL18A1):c.1187_1200dup (p.Pro401fs) rs768663340 0.00001
NM_001379500.1(COL18A1):c.2666_2667insT (p.Gly892fs) rs1568930288 0.00001
NM_001379500.1(COL18A1):c.2157+79dup rs148502711
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3]) rs78227997
NM_001379500.1(COL18A1):c.2829_2846del (p.938PGP[2]) rs78227997

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