ClinVar Miner

List of variants in gene COL18A1 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.107-12592T>C rs914230 0.96979
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg) rs79980197 0.07777
NM_001379500.1(COL18A1):c.107-12656C>T rs7277693 0.00639
NM_001379500.1(COL18A1):c.612C>T (p.Phe204=) rs373748503 0.00581
NM_001379500.1(COL18A1):c.107-12381G>A rs114139997 0.00549
NM_001379500.1(COL18A1):c.667C>T (p.Leu223=) rs60162212 0.00449
NM_001379500.1(COL18A1):c.1998C>T (p.Gly666=) rs62000963 0.00366
NM_001379500.1(COL18A1):c.1254C>T (p.Asp418=) rs368594049 0.00117
NM_001379500.1(COL18A1):c.2158-9C>T rs200143450 0.00074
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.295C>T (p.Arg99Trp) rs199918230 0.00020
NM_001379500.1(COL18A1):c.2623A>G (p.Asn875Asp) rs371993501 0.00016
NM_001379500.1(COL18A1):c.803C>T (p.Ala268Val) rs375414087 0.00004
NM_001379500.1(COL18A1):c.1072G>C (p.Gly358Arg) rs62000458 0.00001
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.1593del (p.Pro534fs) rs778909108
NM_001379500.1(COL18A1):c.1791TGGGCCCCC[1] (p.594PGP[3]) rs764710670
NM_001379500.1(COL18A1):c.738+5G>T rs1555859077

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