ClinVar Miner

List of variants reported as benign for junctional epidermolysis bullosa, non-Herlitz type by Illumina Laboratory Services, Illumina

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000494.4(COL17A1):c.3261T>C (p.Ile1087=) rs2476958 0.98672
NM_000494.4(COL17A1):c.1282G>A (p.Gly428Ser) rs805698 0.84905
NM_000494.4(COL17A1):c.2107A>G (p.Met703Val) rs805722 0.72600
NM_000494.4(COL17A1):c.3278-9C>G rs2274098 0.72589
NM_000494.4(COL17A1):c.2904A>G (p.Pro968=) rs2274100 0.72299
NM_000494.4(COL17A1):c.2595C>T (p.Arg865=) rs4918079 0.71960
NM_000494.4(COL17A1):c.2883C>A (p.Pro961=) rs2296219 0.71801
NM_000494.4(COL17A1):c.629C>T (p.Thr210Met) rs805708 0.59454
NM_000494.4(COL17A1):c.1062C>T (p.Ala354=) rs805701 0.56681
NM_000494.4(COL17A1):c.4109A>G (p.Asp1370Gly) rs17116350 0.28157
NM_000494.4(COL17A1):c.*64G>C rs805687 0.23210
NM_000494.4(COL17A1):c.*638G>A rs9425 0.19895
NM_000494.4(COL17A1):c.1267+13C>T rs11191910 0.13838
NM_000494.4(COL17A1):c.1717+14T>C rs17821926 0.11666
NM_000494.4(COL17A1):c.384T>C (p.Ser128=) rs17116460 0.01786
NM_000494.4(COL17A1):c.53-10C>T rs116946544 0.01760
NM_000494.4(COL17A1):c.2868T>A (p.Pro956=) rs61731077 0.01081
NM_000494.4(COL17A1):c.*74G>T rs12253626 0.00953
NM_000494.4(COL17A1):c.10A>G (p.Thr4Ala) rs17116471 0.00936
NM_000494.4(COL17A1):c.2092+5G>A rs142728983 0.00652
NM_000494.4(COL17A1):c.630G>A (p.Thr210=) rs149012179 0.00615
NM_000494.4(COL17A1):c.4028C>T (p.Pro1343Leu) rs61731087 0.00595
NM_000494.4(COL17A1):c.2605+13G>A rs41290934 0.00547
NM_000494.4(COL17A1):c.1306G>A (p.Gly436Arg) rs805697 0.00540
NM_000494.4(COL17A1):c.3633A>G (p.Ser1211=) rs140197646 0.00443
NM_000494.4(COL17A1):c.3600C>T (p.Asp1200=) rs57358586 0.00395
NM_000494.4(COL17A1):c.1307G>A (p.Gly436Glu) rs61731082 0.00366
NM_000494.4(COL17A1):c.2755G>A (p.Asp919Asn) rs117564807 0.00194
NM_000494.4(COL17A1):c.202+6T>G rs139524792 0.00047
NM_000494.4(COL17A1):c.2208C>T (p.Pro736=) rs139559170 0.00031
NM_000494.4(COL17A1):c.3085T>G (p.Ser1029Ala) rs118166857 0.00031
NM_000494.4(COL17A1):c.2704A>T (p.Thr902Ser) rs117837187 0.00029
NM_000494.4(COL17A1):c.566G>C (p.Gly189Ala) rs376556766 0.00001
NM_000494.4(COL17A1):c.606G>C (p.Ser202=) rs17116450

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