ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP
NM_030582.3(COL18A1):c.4026+14delC rs3835286
NM_030582.4(COL18A1):c.*1148_*1149insCA rs78063943
NM_030582.4(COL18A1):c.*16G>A rs7499
NM_030582.4(COL18A1):c.*71G>A rs8199
NM_030582.4(COL18A1):c.3321C>T (p.Pro1107=) rs11544970
NM_030582.4(COL18A1):c.3364_3377= (p.Gly1122_Pro1126=) rs78227997
NM_030582.4(COL18A1):c.3762A>G (p.Thr1254=) rs12483761
NM_030582.4(COL18A1):c.3978G>A (p.Ala1326=) rs1050351
NM_030582.4(COL18A1):c.4212C>T (p.Ile1404=) rs2838952
NM_030582.4(COL18A1):c.4309G>A (p.Asp1437Asn) rs12483377
NM_194255.4(SLC19A1):c.*2920C>T rs7867

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