ClinVar Miner

Variants in gene COL4A6 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 34
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HGVS dbSNP gnomAD frequency
NM_033641.4(COL4A6):c.2371G>A (p.Gly791Ser) rs143895379 0.00169
NM_033641.4(COL4A6):c.2653G>T (p.Val885Phe) rs112034997 0.00129
NM_033641.4(COL4A6):c.1886G>A (p.Arg629His) rs148929548 0.00100
NM_033641.4(COL4A6):c.1556C>T (p.Ser519Phe) rs191837837 0.00041
NM_033641.4(COL4A6):c.3070A>T (p.Ile1024Phe) rs144126512 0.00029
NM_033641.4(COL4A6):c.726A>C (p.Pro242=) rs149989161 0.00029
NM_033641.4(COL4A6):c.3871G>A (p.Gly1291Arg) rs201920507 0.00027
NM_033641.4(COL4A6):c.2367G>T (p.Lys789Asn) rs148636080 0.00025
NM_033641.4(COL4A6):c.3886C>T (p.Pro1296Ser) rs138267158 0.00023
NM_033641.4(COL4A6):c.3455T>C (p.Ile1152Thr) rs201355021 0.00022
NM_033641.4(COL4A6):c.2806C>T (p.Arg936Cys) rs774641536 0.00021
NM_033641.4(COL4A6):c.1613C>T (p.Ser538Leu) rs775923727 0.00013
NM_033641.4(COL4A6):c.738G>C (p.Glu246Asp) rs151224348 0.00010
NM_033641.4(COL4A6):c.623C>G (p.Pro208Arg) rs2295919 0.00008
NM_033641.4(COL4A6):c.645T>G (p.Asp215Glu) rs753972832 0.00008
NM_033641.4(COL4A6):c.1648A>G (p.Ser550Gly) rs146828247 0.00004
NM_033641.4(COL4A6):c.4601A>G (p.Tyr1534Cys) rs150896729 0.00004
NM_033641.4(COL4A6):c.4730T>C (p.Ile1577Thr) rs374510545 0.00004
NM_033641.4(COL4A6):c.4073C>T (p.Ser1358Phe) rs202146097 0.00003
NM_033641.4(COL4A6):c.833C>T (p.Pro278Leu) rs761681684 0.00003
NM_033641.4(COL4A6):c.2936A>G (p.Asn979Ser) rs756303853 0.00002
NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr) rs766360534 0.00002
NM_033641.4(COL4A6):c.1987G>A (p.Gly663Ser) rs139988853 0.00001
NM_033641.4(COL4A6):c.2164C>T (p.Pro722Ser) rs748867663 0.00001
NM_033641.4(COL4A6):c.1255A>G (p.Ile419Val)
NM_033641.4(COL4A6):c.1384G>A (p.Glu462Lys)
NM_033641.4(COL4A6):c.2023+4T>C
NM_033641.4(COL4A6):c.2075G>A (p.Ser692Asn)
NM_033641.4(COL4A6):c.2230G>A (p.Gly744Ser)
NM_033641.4(COL4A6):c.2685G>T (p.Lys895Asn) rs150454971
NM_033641.4(COL4A6):c.3823G>C (p.Ala1275Pro) rs113329155
NM_033641.4(COL4A6):c.3919G>C (p.Asp1307His)
NM_033641.4(COL4A6):c.780+4G>A
NM_033641.4(COL4A6):c.953A>G (p.Lys318Arg)

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