ClinVar Miner

List of variants in gene COL3A1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 10
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NM_000090.3(COL3A1):c.2550T>C (p.Pro850=) rs794727586
NM_000090.3(COL3A1):c.2553+9C>T rs886042219
NM_000090.3(COL3A1):c.2913T>A (p.Pro971=) rs367872728
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.3935G>A (p.Arg1312Gln) rs772919524
NM_000090.3(COL3A1):c.3983T>G (p.Phe1328Cys) rs1553509872
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) rs779774302
NM_000090.3(COL3A1):c.645A>C (p.Pro215=) rs1000777138
NM_000090.3(COL3A1):c.792A>G (p.Gly264=) rs113304344

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