ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as uncertain significance for not specified

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.2020+18A>C rs374992426 0.00061
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu) rs200984988 0.00011
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val) rs761179248 0.00008
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000091.5(COL4A3):c.756T>A (p.Asp252Glu) rs1412919917 0.00003
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala) rs755344973 0.00002
NM_000091.5(COL4A3):c.4027+10C>T rs778737711 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854 0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg) rs766208466 0.00001
NM_000091.5(COL4A3):c.527C>G (p.Pro176Arg) rs759869958 0.00001
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met) rs573527081 0.00001
NM_000091.5(COL4A3):c.1127C>T (p.Pro376Leu) rs760049264
NM_000091.5(COL4A3):c.1309C>T (p.Pro437Ser) rs763403545
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
NM_000091.5(COL4A3):c.1617A>C (p.Glu539Asp) rs2071190170
NM_000091.5(COL4A3):c.1987C>G (p.Pro663Ala) rs747891356
NM_000091.5(COL4A3):c.2189G>C (p.Gly730Ala)
NM_000091.5(COL4A3):c.2210T>A (p.Leu737His) rs760719817
NM_000091.5(COL4A3):c.223C>A (p.Gln75Lys)
NM_000091.5(COL4A3):c.2434G>A (p.Gly812Ser)
NM_000091.5(COL4A3):c.2489-3C>T
NM_000091.5(COL4A3):c.2509C>A (p.Pro837Thr) rs2106163548
NM_000091.5(COL4A3):c.2522C>T (p.Pro841Leu)
NM_000091.5(COL4A3):c.2657-6C>T
NM_000091.5(COL4A3):c.2714C>T (p.Pro905Leu)
NM_000091.5(COL4A3):c.2935G>A (p.Gly979Ser) rs948395447
NM_000091.5(COL4A3):c.3251A>T (p.Glu1084Val) rs2072858880
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3337+3A>G
NM_000091.5(COL4A3):c.3974G>T (p.Gly1325Val)
NM_000091.5(COL4A3):c.3989T>C (p.Ile1330Thr)
NM_000091.5(COL4A3):c.4213G>C (p.Ala1405Pro)
NM_000091.5(COL4A3):c.4673T>C (p.Ile1558Thr) rs2073643599
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg) rs2073646176
NM_000091.5(COL4A3):c.4862C>T (p.Thr1621Met)
NM_000091.5(COL4A3):c.525G>T (p.Leu175Phe)
NM_000091.5(COL4A3):c.568T>A (p.Phe190Ile) rs371173786
NM_000091.5(COL4A3):c.716G>C (p.Gly239Ala) rs1574699782

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