ClinVar Miner

List of variants in gene combination COL4A3, LOC654841 reported as pathogenic by Counsyl

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Total variants: 11
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HGVS dbSNP
NM_000091.4(COL4A3):c.2031_2038dup (p.Gly680Aspfs) rs1553758893
NM_000091.4(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654
NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.4(COL4A3):c.2621_2622delGAinsT (p.Gly874Valfs) rs1553760257
NM_000091.4(COL4A3):c.2768_2778del11 (p.Val923Glufs) rs766306957
NM_000091.4(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945
NM_000091.4(COL4A3):c.345delG (p.Pro116Leufs) rs749390823
NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.4(COL4A3):c.4347_4353del7 (p.Arg1450Valfs) rs748026887
NM_000091.4(COL4A3):c.4420_4424del5 (p.Leu1474Cysfs) rs1445615417
NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824

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