ClinVar Miner

List of variants in gene COL5A1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu) rs142114921 0.00031
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val) rs557361751 0.00022
NM_000093.5(COL5A1):c.944C>T (p.Thr315Met) rs145093766 0.00019
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010 0.00009
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970 0.00006
NM_000093.5(COL5A1):c.28C>T (p.Arg10Cys) rs1457110544 0.00005
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln) rs759580799 0.00005
NM_000093.5(COL5A1):c.145C>T (p.His49Tyr) rs372168541 0.00004
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229 0.00004
NM_000093.5(COL5A1):c.683C>T (p.Ser228Leu) rs770737485 0.00004
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206 0.00003
NM_000093.5(COL5A1):c.1351G>A (p.Glu451Lys) rs755546104 0.00002
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys) rs777789161 0.00001
NM_000093.5(COL5A1):c.2382C>T (p.Val794=) rs758190171 0.00001
NM_000093.5(COL5A1):c.629G>A (p.Arg210Gln) rs1382944823 0.00001
NM_000093.5(COL5A1):c.691C>T (p.Arg231Trp) rs775853003 0.00001
NM_000093.5(COL5A1):c.846C>T (p.Asp282=) rs775736911 0.00001
NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro) rs1588479393
NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met) rs758197769
NM_000093.5(COL5A1):c.1246TACTACGACCCC[1] (p.416YYDP[1]) rs745934765
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
NM_000093.5(COL5A1):c.2237C>G (p.Pro746Arg) rs1588527590
NM_000093.5(COL5A1):c.2331+3G>A
NM_000093.5(COL5A1):c.2434G>A (p.Glu812Lys) rs1554798924
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_000093.5(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_000093.5(COL5A1):c.2986C>G (p.Pro996Ala) rs774351619
NM_000093.5(COL5A1):c.305T>C (p.Ile102Thr) rs1554781477
NM_000093.5(COL5A1):c.3452C>G (p.Pro1151Arg)
NM_000093.5(COL5A1):c.3562A>G (p.Ile1188Val) rs1588577285
NM_000093.5(COL5A1):c.3595G>C (p.Glu1199Gln) rs867211079
NM_000093.5(COL5A1):c.4085C>T (p.Pro1362Leu) rs1170899907

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