ClinVar Miner

Variants in gene COL18A1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 24
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.2620+29C>T rs73370840 0.16080
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg) rs79980197 0.07777
NM_001379500.1(COL18A1):c.2340G>C (p.Gln780His) rs2230693 0.03222
NM_001379500.1(COL18A1):c.107-12566A>T rs61735029 0.01258
NM_001379500.1(COL18A1):c.1009G>A (p.Gly337Ser) rs76547444 0.01152
NM_001379500.1(COL18A1):c.241C>T (p.Arg81Trp) rs76658745 0.01115
NM_001379500.1(COL18A1):c.2173G>A (p.Val725Met) rs116111018 0.00795
NM_001379500.1(COL18A1):c.107-12656C>T rs7277693 0.00639
NM_001379500.1(COL18A1):c.2379+7C>T rs202100967 0.00379
NM_001379500.1(COL18A1):c.2032-9T>A rs144913625 0.00375
NM_001379500.1(COL18A1):c.1675-6G>A rs142726108 0.00263
NM_001379500.1(COL18A1):c.1203T>C (p.Pro401=) rs375400196 0.00126
NM_001379500.1(COL18A1):c.1254C>T (p.Asp418=) rs368594049 0.00117
NM_001379500.1(COL18A1):c.693G>A (p.Val231=) rs149772252 0.00108
NM_001379500.1(COL18A1):c.107-12541A>G rs200354859 0.00090
NM_001379500.1(COL18A1):c.2478G>A (p.Pro826=) rs369390092 0.00071
NM_001379500.1(COL18A1):c.107-12121C>T rs746406313 0.00021
NM_001379500.1(COL18A1):c.1683A>G (p.Ala561=) rs75222922 0.00016
NM_001379500.1(COL18A1):c.578G>A (p.Arg193Gln) rs2236453 0.00014
NM_001379500.1(COL18A1):c.2388C>T (p.Tyr796=) rs139122081 0.00010
NM_001379500.1(COL18A1):c.2032-10G>A rs368213286 0.00004
NM_001379500.1(COL18A1):c.107-12195G>A rs62000960
NM_001379500.1(COL18A1):c.1158C>G (p.Pro386=) rs533684137
NM_001379500.1(COL18A1):c.929-4C>A rs370679863

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