ClinVar Miner

List of variants in gene COL5A1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 18
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HGVS dbSNP
NC_000009.11:g.137703445A>C
NM_000093.4(COL5A1):c.1429G>A (p.Ala477Thr) rs774936702
NM_000093.4(COL5A1):c.1752G>A (p.Glu584=) rs376865199
NM_000093.4(COL5A1):c.1896C>T (p.Phe632=) rs376478864
NM_000093.4(COL5A1):c.2593-3C>T rs199895142
NM_000093.4(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_000093.4(COL5A1):c.3344C>T (p.Pro1115Leu) rs139039658
NM_000093.4(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206
NM_000093.4(COL5A1):c.3720T>C (p.Gly1240=) rs1554805072
NM_000093.4(COL5A1):c.3906+10C>T rs183881247
NM_000093.4(COL5A1):c.4234G>A (p.Glu1412Lys) rs376893441
NM_000093.4(COL5A1):c.4392+5G>A rs886043312
NM_000093.4(COL5A1):c.67_69CTG[7] (p.Leu28dup) rs773994971
NM_000093.4(COL5A1):c.804C>T (p.Gly268=) rs147729713
NM_000093.4(COL5A1):c.94C>T (p.Pro32Ser) rs886042620
NM_000093.4(COL5A1):c.964G>A (p.Glu322Lys) rs199857770
NM_001278074.1(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_001278074.1(COL5A1):c.805G>A (p.Glu269Lys) rs761079177

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