ClinVar Miner

List of variants reported as pathogenic for Knobloch syndrome

Included ClinVar conditions (1):
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Total variants: 15
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HGVS dbSNP
COL18A1, 2-BP DEL
COL18A1, 2-BP DEL, 3514CT
COL18A1, 2-BP DEL, 3617CT
COL18A1, IVS1AS, A-T, -2
COL18A1, IVS36DS, A-C, +3
NM_030582.4(COL18A1):c.1610dup (p.Gly538fs) rs1555860555
NM_030582.4(COL18A1):c.3213dup (p.Gly1072fs) rs749009747
NM_030582.4(COL18A1):c.3363dup (p.Gly1122fs) rs769882681
NM_030582.4(COL18A1):c.3509_3518del (p.Pro1170fs) rs756797124
NM_030582.4(COL18A1):c.4053_4054del (p.Leu1352fs)
NM_030582.4(COL18A1):c.4054_4055del (p.Leu1352fs) rs398122391
NM_030582.4(COL18A1):c.4309G>A (p.Asp1437Asn) rs12483377
NM_030582.4(COL18A1):c.4349+2T>C rs113847452
NM_030582.4(COL18A1):c.4490_4491insTGCC (p.Cys1498fs) rs1555877107
NM_130445.2(COL18A1):c.2118dupC (p.Gly707Argfs) rs775168204

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