ClinVar Miner

List of variants in gene COL18A1 reported as uncertain significance for not specified

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.1882G>A (p.Ala628Thr) rs181012655 0.00066
NM_001379500.1(COL18A1):c.107-12197G>A rs200284308 0.00063
NM_001379500.1(COL18A1):c.2623A>G (p.Asn875Asp) rs371993501 0.00016
NM_001379500.1(COL18A1):c.651+17C>T rs578202936 0.00007
NM_001379500.1(COL18A1):c.803C>T (p.Ala268Val) rs375414087 0.00004
NM_001379500.1(COL18A1):c.1221+12C>T rs765348415 0.00003
NM_001379500.1(COL18A1):c.979C>T (p.Arg327Trp) rs551388856 0.00002
NM_001379500.1(COL18A1):c.1072G>C (p.Gly358Arg) rs62000458 0.00001
NC_000021.8:g.(?_46825079)_(46933635_?)dup
NG_011903.1:g.104329_104337del rs2124375890
NM_001379500.1(COL18A1):c.107-11397G>T
NM_001379500.1(COL18A1):c.107-11586del
NM_001379500.1(COL18A1):c.107-12195G>A rs62000960
NM_001379500.1(COL18A1):c.107-12645dup rs752078007
NM_001379500.1(COL18A1):c.1341_1358del (p.Gln451_Pro456del) rs753322378
NM_001379500.1(COL18A1):c.1343_1351dup (p.Pro448_Pro450dup) rs775305174
NM_001379500.1(COL18A1):c.1791TGGGCCCCC[1] (p.594PGP[3]) rs764710670
NM_001379500.1(COL18A1):c.352A>C (p.Met118Leu) rs200702024
NM_001379500.1(COL18A1):c.654G>T (p.Gly218=)
NM_001379500.1(COL18A1):c.738+5G>T rs1555859077

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