ClinVar Miner

List of variants in gene COL3A1 reported by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 47
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HGVS dbSNP
NM_000090.3(COL3A1):c.1106G>T (p.Gly369Val)
NM_000090.3(COL3A1):c.1156C>T (p.Pro386Ser) rs757192342
NM_000090.3(COL3A1):c.1293+15T>A rs2271679
NM_000090.3(COL3A1):c.1450G>A (p.Glu484Lys)
NM_000090.3(COL3A1):c.1509+7_1509+21delAACTTTAGTTTCTAT rs781662866
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.1617C>T (p.Pro539=) rs141091206
NM_000090.3(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.3(COL3A1):c.1691G>C (p.Gly564Ala) rs193922176
NM_000090.3(COL3A1):c.1762G>A (p.Gly588Ser) rs1553508338
NM_000090.3(COL3A1):c.178G>A (p.Val60Ile) rs762028131
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1816-19T>C rs114299724
NM_000090.3(COL3A1):c.1864C>T (p.Pro622Ser) rs772638774
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.2038C>T (p.Pro680Ser)
NM_000090.3(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775
NM_000090.3(COL3A1):c.2247A>G (p.Pro749=) rs1553508706
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser) rs587779723
NM_000090.3(COL3A1):c.3071G>A (p.Arg1024Gln)
NM_000090.3(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3163G>A (p.Val1055Ile) rs747197616
NM_000090.3(COL3A1):c.3228C>T (p.Pro1076=) rs200917999
NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.3(COL3A1):c.3537C>A (p.Gly1179=) rs146837092
NM_000090.3(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683
NM_000090.3(COL3A1):c.3654G>T (p.Pro1218=) rs35759441
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) rs779774302
NM_000090.3(COL3A1):c.4276A>G (p.Lys1426Glu) rs908421014
NM_000090.3(COL3A1):c.447+1G>A
NM_000090.3(COL3A1):c.448-6C>A
NM_000090.3(COL3A1):c.528+5G>A rs794728038
NM_000090.3(COL3A1):c.560C>T (p.Thr187Ile) rs371583734
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.696A>G (p.Glu232=) rs193922177
NM_000090.3(COL3A1):c.803T>C (p.Phe268Ser) rs1318892403
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp) rs587779673

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