ClinVar Miner

List of variants in gene COL4A6 studied for hearing loss, X-linked 6

Included ClinVar conditions (1):
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_033641.4(COL4A6):c.2808T>C (p.Arg936=) rs4623610 0.98777
NM_033641.4(COL4A6):c.1360T>C (p.Ser454Pro) rs1042065 0.74364
NM_033641.4(COL4A6):c.2956+39G>A rs2295914 0.64644
NM_033641.4(COL4A6):c.949-31C>G rs1266719 0.62433
NM_033641.4(COL4A6):c.3078C>T (p.Gly1026=) rs5973851 0.26004
NM_033641.4(COL4A6):c.3402C>T (p.Ala1134=) rs2295912 0.05171
NM_033641.4(COL4A6):c.4812+8C>T rs73251797 0.05127
NM_033641.4(COL4A6):c.3481A>G (p.Ile1161Val) rs34466065 0.03911
NM_033641.4(COL4A6):c.3373C>T (p.Pro1125Ser) rs35179844 0.03732
NM_033641.4(COL4A6):c.3855G>A (p.Ser1285=) rs34132805 0.03145
NM_033641.4(COL4A6):c.4082T>C (p.Leu1361Pro) rs35363062 0.03050
NM_033641.4(COL4A6):c.303T>C (p.Phe101=) rs149820261 0.01271
NM_033641.4(COL4A6):c.3760G>T (p.Ala1254Ser) rs145388022 0.00827
NM_033641.4(COL4A6):c.3139-4G>A rs185777707 0.00750
NM_033641.4(COL4A6):c.323C>T (p.Pro108Leu) rs139802816 0.00690
NM_033641.4(COL4A6):c.4070-17C>T rs141656095 0.00646
NM_033641.4(COL4A6):c.286A>T (p.Met96Leu) rs144792752 0.00553
NM_033641.4(COL4A6):c.1125A>G (p.Glu375=) rs142057815 0.00526
NM_033641.4(COL4A6):c.2888A>T (p.Asn963Ile) rs143146797 0.00431
NM_033641.4(COL4A6):c.528T>G (p.Pro176=) rs12390371 0.00296
NM_033641.4(COL4A6):c.3474C>T (p.Pro1158=) rs144145420 0.00192
NM_033641.4(COL4A6):c.2409G>A (p.Gly803=) rs139372880 0.00149
NM_033641.4(COL4A6):c.3537G>A (p.Pro1179=) rs144803723 0.00149
NM_033641.4(COL4A6):c.2400C>A (p.Gly800=) rs60172559 0.00145
NM_033641.4(COL4A6):c.3192A>G (p.Pro1064=) rs149715446 0.00130
NM_033641.4(COL4A6):c.1886G>A (p.Arg629His) rs148929548 0.00100
NM_033641.4(COL4A6):c.2039G>A (p.Arg680Gln) rs146510405 0.00091
NM_033641.4(COL4A6):c.3138+17C>T rs369016527 0.00090
NM_033641.4(COL4A6):c.432C>T (p.Leu144=) rs2295920 0.00086
NM_033641.4(COL4A6):c.1431C>T (p.Asp477=) rs139740946 0.00083
NM_033641.4(COL4A6):c.1676G>A (p.Arg559Gln) rs142508831 0.00077
NM_033641.4(COL4A6):c.4299T>A (p.Gly1433=) rs2294464 0.00063
NM_033641.4(COL4A6):c.1533A>G (p.Lys511=) rs139333183 0.00046
NM_033641.4(COL4A6):c.3809-14G>A rs192754010 0.00032
NM_033641.4(COL4A6):c.4404G>A (p.Thr1468=) rs147362613 0.00032
NM_033641.4(COL4A6):c.1922C>T (p.Pro641Leu) rs140900431 0.00020
NM_033641.4(COL4A6):c.4609C>T (p.Arg1537Cys) rs376450994 0.00016
NM_033641.4(COL4A6):c.835-6A>G rs189915873 0.00013
NM_033641.4(COL4A6):c.672A>G (p.Gly224=) rs762112922 0.00006
NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser) rs779748859 0.00003
NM_033641.4(COL4A6):c.2013C>T (p.Pro671=) rs200299007 0.00003
NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr) rs766360534 0.00002
NM_033641.4(COL4A6):c.114C>T (p.Ser38=) rs377506539 0.00001
NM_033641.4(COL4A6):c.1654A>T (p.Ile552Phe) rs748877857 0.00001
NM_033641.4(COL4A6):c.1180+4dup rs368897242
NM_033641.4(COL4A6):c.1379G>A (p.Arg460Gln) rs34740537
NM_033641.4(COL4A6):c.1379G>T (p.Arg460Leu) rs34740537
NM_033641.4(COL4A6):c.1952-2785_1952-2784insAGA rs146680910
NM_033641.4(COL4A6):c.2132-6G>A rs201589060
NM_033641.4(COL4A6):c.2132-6G>T rs201589060
NM_033641.4(COL4A6):c.227G>A (p.Gly76Glu)
NM_033641.4(COL4A6):c.2506G>A (p.Gly836Ser)
NM_033641.4(COL4A6):c.4768C>T (p.Pro1590Ser) rs2148048891
NM_033641.4(COL4A6):c.628G>C (p.Gly210Arg)
NM_033641.4(COL4A6):c.687+30C>A rs1266730
NM_033641.4(COL4A6):c.74C>T (p.Ser25Phe)
NM_033641.4(COL4A6):c.853GAAAAGGGA[2] (p.285EKG[2]) rs772506311

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