ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP
NM_030582.3(COL18A1):c.3268-8G>A rs116618591
NM_030582.3(COL18A1):c.3321C>T (p.Pro1107=) rs11544970
NM_030582.3(COL18A1):c.3369_3377delCCCAGGCCC (p.Pro1124_Pro1126del) rs78227997
NM_130445.3(COL18A1):c.*277T>C rs17004784
NM_130445.3(COL18A1):c.*306G>C rs17004785
NM_130445.3(COL18A1):c.*852G>C rs17004786
NM_130445.3(COL18A1):c.2815G>A (p.Gly939Ser) rs753363173
NM_130445.3(COL18A1):c.2832A>C (p.Pro944=) rs751825604
NM_130445.3(COL18A1):c.3231A>G (p.Pro1077=) rs886057130
NM_130445.3(COL18A1):c.3673G>A (p.Val1225Ile) rs750065884
NM_130445.3(COL18A1):c.3681C>T (p.Leu1227=) rs886057134
NM_130445.3(COL18A1):c.3778G>A (p.Asp1260Asn) rs886057136
NM_130445.3(COL18A1):c.3823G>T (p.Gly1275Cys) rs886057137

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