ClinVar Miner

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

Included ClinVar conditions (3):
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Total variants: 36
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HGVS dbSNP
NM_000091.4(COL4A3):c.1156_1158delTCA rs1553755078
NM_000091.4(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913
NM_000091.4(COL4A3):c.1459G>T (p.Gly487Cys) rs745472969
NM_000091.4(COL4A3):c.145G>A (p.Gly49Arg) rs1553749403
NM_000091.4(COL4A3):c.1687G>A (p.Gly563Arg) rs1553757060
NM_000091.4(COL4A3):c.172G>A (p.Gly58Ser) rs184730597
NM_000091.4(COL4A3):c.1892G>T (p.Gly631Val) rs1315862965
NM_000091.4(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437
NM_000091.4(COL4A3):c.2765G>T (p.Gly922Val) rs920413118
NM_000091.4(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530
NM_000091.4(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.4(COL4A3):c.3189_3197dup (p.1064_1066PGP[3]) rs1553762295
NM_000091.4(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291
NM_000091.4(COL4A3):c.3662_3664del (p.Glu1221del) rs756342074
NM_000091.4(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401
NM_000091.4(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500
NM_000091.4(COL4A3):c.3882+5G>A rs1553764454
NM_000091.4(COL4A3):c.4295G>A (p.Arg1432His) rs200509072
NM_000091.4(COL4A3):c.4326_4328del (p.Thr1443del) rs941454321
NM_000091.4(COL4A3):c.441G>A (p.Pro147=) rs373559251
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.443G>T (p.Gly148Val) rs775373641
NM_000091.4(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.4(COL4A3):c.4504T>C (p.Phe1502Leu) rs1553766367
NM_000091.4(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013
NM_000091.4(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461
NM_000091.4(COL4A3):c.4615_4617dup (p.Arg1539dup) rs773268719
NM_000091.4(COL4A3):c.469G>C (p.Gly157Arg) rs764451365
NM_000091.4(COL4A3):c.4798_4800del (p.Ser1600del) rs775551399
NM_000091.4(COL4A3):c.4976dup (p.Ser1660fs) rs1553766929
NM_000091.4(COL4A3):c.4977_4979dup (p.Ser1660_Arg1661insArg) rs1553766932
NM_000091.4(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000091.4(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000091.5(COL4A3):c.365T>C (p.Val122Ala) rs766935732
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782

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