ClinVar Miner

Variants in gene combination COL18A1, SLC19A1 with conflicting interpretations reported as "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: 27
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.3694-33A>C rs56335679 0.47305
NM_001379500.1(COL18A1):c.3694-32C>A rs55690336 0.45427
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=) rs11544970 0.02268
NM_001379500.1(COL18A1):c.2728-8G>A rs116618591 0.01979
NM_001379500.1(COL18A1):c.2787C>T (p.Gly929=) rs11544971 0.01462
NM_001379500.1(COL18A1):c.3823G>T (p.Val1275Leu) rs61736805 0.01313
NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr) rs144147445 0.00980
NM_001379500.1(COL18A1):c.3352G>A (p.Ala1118Thr) rs113268527 0.00717
NM_001379500.1(COL18A1):c.3673G>A (p.Val1225Met) rs77326997 0.00707
NM_001379500.1(COL18A1):c.2979A>C (p.Pro993=) rs575364982 0.00407
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=) rs370656151 0.00231
NM_001379500.1(COL18A1):c.3314G>A (p.Arg1105Gln) rs374207420 0.00219
NM_001379500.1(COL18A1):c.3250-15G>A rs377715562 0.00215
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His) rs201006742 0.00202
NM_001379500.1(COL18A1):c.3837G>A (p.Ser1279=) rs113315760 0.00106
NM_001379500.1(COL18A1):c.2890C>T (p.Arg964Trp) rs371106773 0.00071
NM_001379500.1(COL18A1):c.3851G>A (p.Arg1284His) rs202049650 0.00061
NM_001379500.1(COL18A1):c.3735C>T (p.Gly1245=) rs368913533 0.00040
NM_001379500.1(COL18A1):c.2684-14TC[2] rs148455528
NM_001379500.1(COL18A1):c.2702TTC[1] (p.Leu902del) rs371849586
NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg) rs187721798
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3]) rs78227997
NM_001379500.1(COL18A1):c.2982G>C (p.Gly994=) rs367651350
NM_001379500.1(COL18A1):c.3087+9_3087+10del rs373823632
NM_001379500.1(COL18A1):c.3495+14C>G rs191291169
NM_001379500.1(COL18A1):c.3531C>T (p.Gly1177=) rs376208451

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