ClinVar Miner

List of variants reported as likely benign for Junctional epidermolysis bullosa

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.-55G>A rs75007722 0.01816
NM_005562.3(LAMC2):c.3546A>G (p.Pro1182=) rs41314547 0.00540
NM_005562.3(LAMC2):c.*999C>G rs73055716 0.00490
NM_005562.3(LAMC2):c.*1011T>C rs115403627 0.00465
NM_005562.3(LAMC2):c.2754+9T>C rs113467864 0.00434
NM_000228.2(LAMB3):c.*402C>T rs12074071 0.00372
NM_005562.3(LAMC2):c.880C>T (p.Leu294=) rs144572936 0.00307
NM_000228.3(LAMB3):c.2286C>T (p.Thr762=) rs11555726 0.00282
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys) rs142335339 0.00261
NM_005562.3(LAMC2):c.1899G>C (p.Leu633=) rs141812464 0.00257
NM_000228.3(LAMB3):c.867T>C (p.Asn289=) rs115579649 0.00254
NM_005562.3(LAMC2):c.1262G>A (p.Gly421Glu) rs148753246 0.00185
NM_005562.3(LAMC2):c.2736T>C (p.Asn912=) rs146196115 0.00170
NM_005562.3(LAMC2):c.889A>G (p.Thr297Ala) rs143817389 0.00144
NM_000228.3(LAMB3):c.3124C>T (p.Arg1042Trp) rs114040223 0.00132
NM_000228.3(LAMB3):c.1194G>A (p.Gln398=) rs116602483 0.00103
NM_000228.3(LAMB3):c.2933G>C (p.Gly978Ala) rs138748613 0.00102
NM_000228.3(LAMB3):c.1413G>A (p.Lys471=) rs112316651 0.00096
NM_005562.3(LAMC2):c.509G>T (p.Arg170Leu) rs141806165 0.00094
NM_000228.3(LAMB3):c.1188C>T (p.Thr396=) rs115883756 0.00082
NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met) rs139043074 0.00072
NM_000228.3(LAMB3):c.67C>T (p.Arg23Cys) rs115191959 0.00047
NM_005562.3(LAMC2):c.*848C>T rs546806342 0.00023
NM_000228.3(LAMB3):c.734G>A (p.Arg245His) rs114886812 0.00016
NM_005562.3(LAMC2):c.1491T>G (p.Ala497=) rs539212332 0.00016
NM_005562.3(LAMC2):c.589C>T (p.Arg197Cys) rs184817147 0.00013
NM_000228.3(LAMB3):c.1667G>A (p.Arg556His) rs371013768 0.00005
NM_000228.3(LAMB3):c.1236A>G (p.Leu412=) rs202113091 0.00003
NM_000228.3(LAMB3):c.1616G>A (p.Arg539Gln) rs530692211 0.00003
NM_000228.3(LAMB3):c.*137T>C rs549169984 0.00001
NM_000228.3(LAMB3):c.*262G>A rs371579247
NM_000228.3(LAMB3):c.*70G>A rs368450102
NM_000494.4(COL17A1):c.*749del rs371940445
NM_005562.3(LAMC2):c.*1324C>T rs183760448
NM_005562.3(LAMC2):c.*875G>A rs10797863
NM_005562.3(LAMC2):c.2570G>C (p.Arg857Pro) rs144908769

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