ClinVar Miner

List of variants reported as benign for Knobloch syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
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.120T>C (p.His40=) rs914230
NM_030582.4(COL18A1):c.1377C>G (p.Pro459=) rs2230687
NM_030582.4(COL18A1):c.1386G>T (p.Thr462=) rs2230688
NM_030582.4(COL18A1):c.1764C>G (p.Gly588=) rs13046486
NM_030582.4(COL18A1):c.1815C>T (p.Pro605=) rs1131100
NM_030582.4(COL18A1):c.1830C>T (p.Asp610=) rs1131101
NM_030582.4(COL18A1):c.1968C>T (p.Phe656=) rs2236467
NM_030582.4(COL18A1):c.2460T>C (p.Leu820=) rs11702425
NM_030582.4(COL18A1):c.2521G>A (p.Val841Ile) rs62000962
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.4035+14del rs3835286
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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