ClinVar Miner

List of variants in gene combination COL18A1, SLC19A1 reported as pathogenic for Knobloch syndrome

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP
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

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