ClinVar Miner

List of variants in gene COL11A1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549 0.00897
NM_001854.4(COL11A1):c.*1203G>A rs190577885 0.00554
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_001854.4(COL11A1):c.3979-14A>T rs186245518 0.00338
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00284
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00251
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647 0.00233
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674 0.00061
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala) rs375675171 0.00023
NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=) rs141432979 0.00014
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=) rs141770006 0.00009
NM_001854.4(COL11A1):c.3136G>A (p.Gly1046Arg) rs760387652 0.00006
NM_001854.4(COL11A1):c.3600+8G>A rs188045535 0.00006
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_001854.4(COL11A1):c.2389G>A (p.Asp797Asn) rs762668220 0.00004
NM_001854.4(COL11A1):c.2916+3A>G rs200515572 0.00004
NM_001854.4(COL11A1):c.3357C>T (p.Ala1119=) rs375400337 0.00003
NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu) rs750838060 0.00003
NM_001854.4(COL11A1):c.4176C>A (p.Thr1392=) rs750903509 0.00003
NM_001854.4(COL11A1):c.1052A>G (p.Gln351Arg) rs751155680 0.00001
NM_001854.4(COL11A1):c.1717A>G (p.Thr573Ala) rs560019202 0.00001
NM_001854.4(COL11A1):c.1742G>A (p.Arg581His) rs769449348 0.00001
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=) rs544663655 0.00001
NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=) rs768553239 0.00001
NM_001854.4(COL11A1):c.3496G>T (p.Gly1166Cys) rs777456846 0.00001
NM_001854.4(COL11A1):c.4750A>T (p.Asn1584Tyr) rs1470853407 0.00001
NM_001854.4(COL11A1):c.1176A>G (p.Lys392=)
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1537G>C (p.Glu513Gln) rs1288240581
NM_001854.4(COL11A1):c.1576G>T (p.Ala526Ser)
NM_001854.4(COL11A1):c.1642T>A (p.Ser548Thr)
NM_001854.4(COL11A1):c.2142+368T>C
NM_001854.4(COL11A1):c.2142+734A>G
NM_001854.4(COL11A1):c.2142+744C>T
NM_001854.4(COL11A1):c.2241+1G>C
NM_001854.4(COL11A1):c.2267T>C (p.Ile756Thr)
NM_001854.4(COL11A1):c.2295+1G>C rs1664585937
NM_001854.4(COL11A1):c.2395-3C>A
NM_001854.4(COL11A1):c.2423G>A (p.Gly808Glu) rs754751701
NM_001854.4(COL11A1):c.246C>G (p.Leu82=)
NM_001854.4(COL11A1):c.2611-2A>T
NM_001854.4(COL11A1):c.2998G>A (p.Gly1000Ser) rs1661033116
NM_001854.4(COL11A1):c.3081T>C (p.Gly1027=)
NM_001854.4(COL11A1):c.3226C>T (p.Arg1076Cys) rs1659348330
NM_001854.4(COL11A1):c.3254C>A (p.Pro1085Gln)
NM_001854.4(COL11A1):c.3437A>G (p.Asn1146Ser) rs1658444521
NM_001854.4(COL11A1):c.3758A>G (p.Glu1253Gly) rs2101066506
NM_001854.4(COL11A1):c.3978+2T>G rs1570712875
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.4465-1G>A
NM_001854.4(COL11A1):c.4666A>G (p.Arg1556Gly)
NM_001854.4(COL11A1):c.4878T>C (p.Pro1626=) rs1570618762
NM_001854.4(COL11A1):c.501A>G (p.Val167=)
NM_001854.4(COL11A1):c.652-1G>C rs1064797115
NM_001854.4(COL11A1):c.977C>G (p.Ser326Cys)

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