ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as benign for Alport syndrome, autosomal recessive

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Total variants: 33
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HGVS dbSNP
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His) rs34505188
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.5(COL4A3):c.144+12C>A rs1882435
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152
NM_000091.5(COL4A3):c.1576-15T>G rs56243460
NM_000091.5(COL4A3):c.1576-60G>A rs73993878
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984
NM_000091.5(COL4A3):c.2223+100G>T
NM_000091.5(COL4A3):c.2375-66C>T
NM_000091.5(COL4A3):c.2881+46A>G
NM_000091.5(COL4A3):c.324+73C>T
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.5(COL4A3):c.3419-39C>T rs4675163
NM_000091.5(COL4A3):c.3419-4del
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801
NM_000091.5(COL4A3):c.4154-69C>T
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro) rs10178458
NM_000091.5(COL4A3):c.4253-51G>A
NM_000091.5(COL4A3):c.441+146G>T
NM_000091.5(COL4A3):c.441+150G>T
NM_000091.5(COL4A3):c.442-88A>G
NM_000091.5(COL4A3):c.468+139C>T
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669
NM_000091.5(COL4A3):c.765+49T>G
NM_000091.5(COL4A3):c.828+20A>G rs13386404
NM_000091.5(COL4A3):c.828+59C>G
NM_000091.5(COL4A3):c.888+30G>A rs35467545
NM_000091.5(COL4A3):c.933+14T>C rs55928538
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767
NM_000091.5(COL4A3):c.987+35T>G rs10933172
NM_000091.5(COL4A3):c.988-80T>C rs56326869

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