ClinVar Miner

List of variants studied for Knobloch syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.2032-9T>A rs144913625 0.00375
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=) rs370656151 0.00231
NM_001379500.1(COL18A1):c.2948G>A (p.Arg983His) rs200299380 0.00163
NM_001379500.1(COL18A1):c.3316C>T (p.Arg1106Trp) rs377620137 0.00154
NM_001379500.1(COL18A1):c.1702-20G>A rs374576102 0.00081
NM_001379500.1(COL18A1):c.107-12197G>A rs200284308 0.00063
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_001379500.1(COL18A1):c.2693C>T (p.Pro898Leu) rs201753320 0.00026
NM_001379500.1(COL18A1):c.2947C>T (p.Arg983Cys) rs372973695 0.00025
NM_001379500.1(COL18A1):c.3761C>T (p.Ala1254Val) rs763990411 0.00015
NM_001379500.1(COL18A1):c.613G>A (p.Val205Met) rs201116208 0.00014
NM_001379500.1(COL18A1):c.3757G>A (p.Gly1253Arg) rs374321733 0.00011
NM_001379500.1(COL18A1):c.2869-11G>A rs566226316 0.00009
NM_001379500.1(COL18A1):c.3336C>T (p.Thr1112=) rs781100621 0.00006
NM_001379500.1(COL18A1):c.2103C>T (p.Gly701=) rs377652187 0.00005
NM_001379500.1(COL18A1):c.1058G>A (p.Arg353Gln) rs373030953 0.00004
NM_001379500.1(COL18A1):c.1195G>A (p.Gly399Ser) rs769431765 0.00003
NM_001379500.1(COL18A1):c.2929G>A (p.Gly977Ser) rs371933414 0.00003
NM_001379500.1(COL18A1):c.577C>T (p.Arg193Trp) rs571541763 0.00003
NM_001379500.1(COL18A1):c.1720G>A (p.Gly574Ser) rs1357428784 0.00002
NM_001379500.1(COL18A1):c.2092G>A (p.Gly698Arg) rs767150342 0.00002
NM_001379500.1(COL18A1):c.3446C>T (p.Ala1149Val) rs1395632086 0.00001
NM_001379500.1(COL18A1):c.2702TTC[1] (p.Leu902del) rs371849586
NM_001379500.1(COL18A1):c.2824_2838del (p.Gly942_Pro946del)
NM_001379500.1(COL18A1):c.3495+14C>G rs191291169
NM_002577.4(PAK2):c.1309G>A (p.Val437Ile)

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