ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as likely pathogenic by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469 0.00001
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) rs1457269547 0.00001
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) rs1574727988
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg) rs1574728278
NM_000091.5(COL4A3):c.1814G>T (p.Gly605Val)
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp) rs1574767962
NM_000091.5(COL4A3):c.2126-1G>C rs2071831565
NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala)
NM_000091.5(COL4A3):c.2711G>A (p.Gly904Glu)
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) rs121912826
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.370G>C (p.Gly124Arg)

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