ClinVar Miner

List of variants reported as benign for Junctional epidermolysis bullosa

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.2702-12dup rs397807887 0.95488
NM_000228.3(LAMB3):c.823-15C>T rs4844863 0.84219
NM_000228.2(LAMB3):c.*403A>G rs926387 0.75295
NM_000228.3(LAMB3):c.1716T>C (p.Cys572=) rs2179402 0.74805
NM_000228.3(LAMB3):c.291A>C (p.Ser97=) rs2076356 0.56410
NM_005562.3(LAMC2):c.268+14A>G rs647347 0.45636
NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=) rs1049607 0.44327
NM_000228.3(LAMB3):c.384C>T (p.Pro128=) rs1130667 0.30741
NM_005562.3(LAMC2):c.798T>G (p.Gly266=) rs1047980 0.29549
NM_005562.3(LAMC2):c.2688G>A (p.Gln896=) rs1047981 0.29455
NM_000228.3(LAMB3):c.*102C>T rs2566 0.27226
NM_005562.2(LAMC2):c.-183G>A rs2276543 0.26829
NM_005562.3(LAMC2):c.483C>T (p.Val161=) rs1129723 0.25575
NM_005562.3(LAMC2):c.297C>T (p.Ser99=) rs2274980 0.25565
NM_000228.3(LAMB3):c.138C>T (p.Thr46=) rs2228339 0.25110
NM_005562.3(LAMC2):c.-6C>A rs684527 0.24932
NM_005562.3(LAMC2):c.*13T>G rs3768593 0.23969
NM_000494.4(COL17A1):c.*363del rs113786874 0.22700
NM_005562.3(LAMC2):c.-89A>G rs2276542 0.17959
NM_005562.3(LAMC2):c.2198G>C (p.Ser733Thr) rs2296303 0.16512
NM_005562.2(LAMC2):c.-260C>A rs2276544 0.13932
NM_000228.3(LAMB3):c.1579G>A (p.Val527Met) rs2076349 0.12644
NM_000228.3(LAMB3):c.2673A>G (p.Leu891=) rs3179860 0.11219
NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu) rs12748250 0.11215
NM_005562.3(LAMC2):c.371C>T (p.Thr124Met) rs11586699 0.05840
NM_000228.3(LAMB3):c.1149G>A (p.Pro383=) rs2076351 0.05772
NM_005562.3(LAMC2):c.*746G>T rs587387 0.04604
NM_000228.3(LAMB3):c.1312T>A (p.Ser438Thr) rs2229468 0.04067
NM_005562.3(LAMC2):c.*928A>G rs553836 0.04025
NM_005562.3(LAMC2):c.*310G>A rs599630 0.04005
NM_000228.3(LAMB3):c.3448C>T (p.Leu1150=) rs2228342 0.03922
NM_005562.3(LAMC2):c.3367C>T (p.Leu1123=) rs587281 0.03867
NM_005562.3(LAMC2):c.-38C>G rs77133472 0.03841
NM_005562.3(LAMC2):c.331G>C (p.Ala111Pro) rs12065473 0.03585
NM_005562.3(LAMC2):c.741C>A (p.Asp247Glu) rs2296306 0.03381
NM_005562.3(LAMC2):c.*362T>C rs6687880 0.03325
NM_000228.3(LAMB3):c.2702-14G>A rs199838217 0.02820
NM_000228.3(LAMB3):c.1764T>C (p.Tyr588=) rs2229465 0.02743
NM_000228.3(LAMB3):c.2777C>A (p.Ala926Asp) rs2076222 0.02691
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=) rs2072937 0.02665
NM_000228.3(LAMB3):c.2069A>G (p.Asn690Ser) rs2229466 0.02614
NM_000228.3(LAMB3):c.541A>G (p.Asn181Asp) rs2235542 0.02610
NM_000228.3(LAMB3):c.564+10G>A rs12410975 0.02306
NM_000228.3(LAMB3):c.2723C>T (p.Thr908Ile) rs61753424 0.01891
NM_000228.3(LAMB3):c.2556+13G>A rs113339950 0.01851
NM_005562.3(LAMC2):c.*600A>G rs77018464 0.01559
NM_005562.3(LAMC2):c.2035C>T (p.Leu679Phe) rs62640910 0.01374
NM_000228.3(LAMB3):c.2542C>T (p.Arg848Trp) rs59260335 0.01279
NM_000228.3(LAMB3):c.1015T>C (p.Tyr339His) rs52814161 0.01066
NM_000228.3(LAMB3):c.2260C>T (p.Arg754Trp) rs62637710 0.00948
NM_005562.3(LAMC2):c.344G>A (p.Arg115Gln) rs17481405 0.00892
NM_005562.3(LAMC2):c.269-15C>T rs12085883 0.00715
NM_005562.3(LAMC2):c.*133C>A rs114841922 0.00698
NM_000228.3(LAMB3):c.689G>C (p.Arg230Thr) rs61734502 0.00697
NM_005562.3(LAMC2):c.*749G>A rs146315432 0.00613
NM_005562.3(LAMC2):c.*1235G>C rs74129665 0.00542
NM_005562.3(LAMC2):c.*856C>T rs116496189 0.00479
NM_005562.3(LAMC2):c.2422C>G (p.Pro808Ala) rs144355456 0.00439
NM_000228.3(LAMB3):c.1439C>T (p.Pro480Leu) rs61734494 0.00363
NM_000228.3(LAMB3):c.372+10C>T rs192386323 0.00302
NM_005562.3(LAMC2):c.3000T>A (p.Ala1000=) rs78793848 0.00161
NM_005562.3(LAMC2):c.407A>T (p.Asp136Val) rs12037099 0.00130
NM_005562.3(LAMC2):c.*1097C>T rs76939882 0.00128
NM_000228.3(LAMB3):c.2359-15G>A rs147708427 0.00111
NM_000228.3(LAMB3):c.2403C>T (p.Cys801=) rs115279528 0.00017
NM_005562.3(LAMC2):c.*875G>T rs10797863
NM_005562.3(LAMC2):c.1066+12C>A rs12092752

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