ClinVar Miner

List of variants reported as benign for Alport syndrome, autosomal recessive

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Total variants: 68
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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
NM_000092.5(COL4A4):c.1029+72G>A
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.5(COL4A4):c.1987+91T>C rs7597336
NM_000092.5(COL4A4):c.2164+78G>A rs11898094
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.2545+46A>T
NM_000092.5(COL4A4):c.2545+51A>G
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.5(COL4A4):c.2969-50A>G rs2272205
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517
NM_000092.5(COL4A4):c.3214+129G>C
NM_000092.5(COL4A4):c.3214+159A>G
NM_000092.5(COL4A4):c.3215-66C>T
NM_000092.5(COL4A4):c.3578-84T>C
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363
NM_000092.5(COL4A4):c.3684G>A (p.Lys1228=) rs2229812
NM_000092.5(COL4A4):c.3817+9G>C rs13423714
NM_000092.5(COL4A4):c.3973+34T>C
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556
NM_000092.5(COL4A4):c.4091-36G>A
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895
NM_000092.5(COL4A4):c.4217-24C>T
NM_000092.5(COL4A4):c.4523-8T>C rs13419076
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555
NM_000092.5(COL4A4):c.490-121T>G
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=) rs2228557
NM_000092.5(COL4A4):c.595-111T>C
NM_000092.5(COL4A4):c.657+62G>A rs59938187
NM_000092.5(COL4A4):c.657+67A>G rs58363082
NM_000092.5(COL4A4):c.658-39T>C
NM_000092.5(COL4A4):c.694-72G>T
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421

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