ClinVar Miner

List of variants in gene LAMB3 studied for junctional epidermolysis bullosa, non-Herlitz type

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 100
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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_000228.3(LAMB3):c.1716T>C (p.Cys572=) rs2179402 0.74805
NM_000228.3(LAMB3):c.184-70A>G rs2076357 0.57810
NM_000228.3(LAMB3):c.291A>C (p.Ser97=) rs2076356 0.56410
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_000228.3(LAMB3):c.1976+169T>C rs4844860 0.29396
NM_000228.3(LAMB3):c.298+50T>A rs2076355 0.28812
NM_000228.3(LAMB3):c.2556+60C>T rs3737913 0.27290
NM_000228.3(LAMB3):c.*102C>T rs2566 0.27226
NM_000228.3(LAMB3):c.138C>T (p.Thr46=) rs2228339 0.25110
NM_000228.3(LAMB3):c.1579G>A (p.Val527Met) rs2076349 0.12644
NM_000228.3(LAMB3):c.1486-18G>A rs2076350 0.12625
NM_000228.3(LAMB3):c.1289-52G>A rs2072938 0.12083
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_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.564+10G>A rs12410975 0.02306
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000228.3(LAMB3):c.777C>T (p.Cys259=) rs146529524 0.00047
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs) rs1553277702 0.00028
NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln) rs142912342 0.00015
NM_000228.3(LAMB3):c.1565G>A (p.Arg522Gln) rs144249951 0.00010
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680 0.00006
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805 0.00005
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) rs769967565 0.00004
NM_000228.3(LAMB3):c.2632C>T (p.Arg878Cys) rs199946321 0.00004
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter) rs747916314 0.00003
NM_000228.3(LAMB3):c.565-2A>G rs370148688 0.00003
NM_000228.3(LAMB3):c.1132+5G>A rs770302956 0.00002
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) rs776537364 0.00002
NM_000228.3(LAMB3):c.2397A>G (p.Ile799Met) rs114544692 0.00001
NM_000228.3(LAMB3):c.405C>T (p.Arg135=) rs1007125449 0.00001
NM_000228.3(LAMB3):c.628+42G>A rs587776812 0.00001
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys) rs121912482 0.00001
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter) rs774174881
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.3(LAMB3):c.1204A>T (p.Lys402Ter)
NM_000228.3(LAMB3):c.121del (p.Leu41fs)
NM_000228.3(LAMB3):c.1288+1G>T rs1186161867
NM_000228.3(LAMB3):c.1289-186G>A rs61822212
NM_000228.3(LAMB3):c.1319_1325delinsAGG (p.Arg440fs)
NM_000228.3(LAMB3):c.1410G>A (p.Trp470Ter)
NM_000228.3(LAMB3):c.1435G>T (p.Glu479Ter)
NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs) rs786205095
NM_000228.3(LAMB3):c.1482C>G (p.Asn494Lys)
NM_000228.3(LAMB3):c.1598-1G>T
NM_000228.3(LAMB3):c.1628dup (p.Cys546fs)
NM_000228.3(LAMB3):c.1727C>T (p.Pro576Leu) rs202063530
NM_000228.3(LAMB3):c.1876delinsAAATT (p.Asp626fs)
NM_000228.3(LAMB3):c.2089_2100delinsA (p.Gln697fs)
NM_000228.3(LAMB3):c.2166C>A (p.Tyr722Ter)
NM_000228.3(LAMB3):c.222_223del (p.His75fs)
NM_000228.3(LAMB3):c.2257_2258insGCCACAAGCT (p.Val753fs)
NM_000228.3(LAMB3):c.2327C>A (p.Ser776Ter)
NM_000228.3(LAMB3):c.239_240del (p.His80fs)
NM_000228.3(LAMB3):c.2421_2422del (p.Gln808fs)
NM_000228.3(LAMB3):c.2482del (p.Ala828fs)
NM_000228.3(LAMB3):c.2592dup (p.Ser865fs)
NM_000228.3(LAMB3):c.2677del (p.Gln893fs)
NM_000228.3(LAMB3):c.2706dup (p.Asp903fs)
NM_000228.3(LAMB3):c.2773_2774del (p.Ala926fs)
NM_000228.3(LAMB3):c.2800del (p.Glu934fs)
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp) rs2229467
NM_000228.3(LAMB3):c.298+5G>C
NM_000228.3(LAMB3):c.3008G>C (p.Gly1003Ala) rs768371778
NM_000228.3(LAMB3):c.3034del (p.Gln1012fs)
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) rs777672897
NM_000228.3(LAMB3):c.3226G>T (p.Glu1076Ter)
NM_000228.3(LAMB3):c.3228+1G>A rs778026407
NM_000228.3(LAMB3):c.3247C>T (p.Gln1083Ter) rs2102403618
NM_000228.3(LAMB3):c.378del (p.Met127fs)
NM_000228.3(LAMB3):c.385del (p.Ala129fs)
NM_000228.3(LAMB3):c.421A>T (p.Lys141Ter)
NM_000228.3(LAMB3):c.444C>G (p.Tyr148Ter)
NM_000228.3(LAMB3):c.446_447delinsCAAAGGAAGA (p.Leu149fs)
NM_000228.3(LAMB3):c.497_498delinsT (p.Gln166fs)
NM_000228.3(LAMB3):c.528_529delinsT (p.Pro177fs)
NM_000228.3(LAMB3):c.565-3T>C rs587776813
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) rs121912486
NM_000228.3(LAMB3):c.619A>C (p.Lys207Gln) rs121912487
NM_000228.3(LAMB3):c.628+2T>A rs1666753666
NM_000228.3(LAMB3):c.629-1G>A rs587776814
NM_000228.3(LAMB3):c.758_759del (p.His253fs)
NM_000228.3(LAMB3):c.76del (p.Cys26fs)
NM_000228.3(LAMB3):c.76dup (p.Cys26fs) rs1553281335
NM_000228.3(LAMB3):c.81T>A (p.Tyr27Ter)
NM_000228.3(LAMB3):c.822+33G>C rs2072940
NM_000228.3(LAMB3):c.823-1G>A rs778372285
NM_000228.3(LAMB3):c.852_853insCCTAGTA (p.Thr285fs)
NM_000228.3(LAMB3):c.891C>G (p.Tyr297Ter)
NM_000228.3(LAMB3):c.904del (p.Trp302fs) rs786205094
NM_000228.3(LAMB3):c.947G>A (p.Cys316Tyr) rs1553277738
NM_000228.3(LAMB3):c.972_973del (p.Cys325fs)
NM_000228.3(LAMB3):c.981del (p.Phe327fs)

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