ClinVar Miner

List of variants reported as benign for Knobloch syndrome by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_030582.4(COL18A1):c.*16G>A rs7499
NM_030582.4(COL18A1):c.1764C>G (p.Gly588=) rs13046486
NM_030582.4(COL18A1):c.2460T>C (p.Leu820=) rs11702425
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

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