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: 16
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HGVS dbSNP
NM_030582.4(COL18A1):c.3234G>A (p.Pro1078=) rs190374248
NM_030582.4(COL18A1):c.3321C>T (p.Pro1107=) rs11544970
NM_030582.4(COL18A1):c.3330C>T (p.Gly1110=) rs564134000
NM_030582.4(COL18A1):c.3363C>A (p.Pro1121=) rs543392161
NM_030582.4(COL18A1):c.3364_3377= (p.Gly1122_Pro1126=) rs78227997
NM_030582.4(COL18A1):c.3369_3377del (p.1118_1120PGP[2]) rs78227997
NM_030582.4(COL18A1):c.3372A>C (p.Pro1124=) rs751825604
NM_030582.4(COL18A1):c.3771A>G (p.Pro1257=) rs886057130
NM_030582.4(COL18A1):c.4213G>A (p.Val1405Ile) rs750065884
NM_030582.4(COL18A1):c.4221C>T (p.Leu1407=) rs886057134
NM_030582.4(COL18A1):c.4309G>A (p.Asp1437Asn) rs12483377
NM_030582.4(COL18A1):c.4318G>A (p.Asp1440Asn) rs886057136
NM_030582.4(COL18A1):c.4363G>T (p.Gly1455Cys) rs886057137
NM_194255.4(SLC19A1):c.*2411T>A rs17255379
NM_194255.4(SLC19A1):c.*2728A>G rs560265269
NM_194255.4(SLC19A1):c.*2958G>T rs17255281

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