ClinVar Miner

List of variants in gene LAMB3 studied for dental enamel hypoplasia

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
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.958_1034dup (p.Asn345fs) rs1553277702 0.00028
NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln) rs142912342 0.00015
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680 0.00006
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter) rs146794392 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.1132+5G>A rs770302956 0.00002
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) rs776537364 0.00002
NM_000228.3(LAMB3):c.977del (p.His326fs) rs753711190 0.00002
NM_000228.3(LAMB3):c.1597+1G>T rs1553277072 0.00001
NM_000228.3(LAMB3):c.2397A>G (p.Ile799Met) rs114544692 0.00001
NM_000228.3(LAMB3):c.285G>A (p.Trp95Ter) rs1558163550 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.1133-22G>A rs767847211
NM_000228.3(LAMB3):c.1192C>T (p.Gln398Ter)
NM_000228.3(LAMB3):c.1201_1202del (p.Cys401fs)
NM_000228.3(LAMB3):c.1288+1G>T rs1186161867
NM_000228.3(LAMB3):c.1289-186G>A rs61822212
NM_000228.3(LAMB3):c.1357del (p.Cys453fs)
NM_000228.3(LAMB3):c.1410del (p.His469_Trp470insTer)
NM_000228.3(LAMB3):c.1423G>A (p.Gly475Ser)
NM_000228.3(LAMB3):c.1472del (p.Pro491fs)
NM_000228.3(LAMB3):c.1485+1G>A
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs) rs769151482
NM_000228.3(LAMB3):c.1676del (p.Gly558_Leu559insTer) rs1666431089
NM_000228.3(LAMB3):c.2116del (p.Lys705_Ile706insTer)
NM_000228.3(LAMB3):c.2242G>T (p.Glu748Ter)
NM_000228.3(LAMB3):c.225_226del (p.His75fs) rs886045870
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter) rs1064793896
NM_000228.3(LAMB3):c.2495del (p.Ala832fs)
NM_000228.3(LAMB3):c.2701+2T>C
NM_000228.3(LAMB3):c.28+1G>T rs113077137
NM_000228.3(LAMB3):c.28+2dup
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000228.3(LAMB3):c.2911_2938del
NM_000228.3(LAMB3):c.2926del (p.Val976fs)
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp) rs2229467
NM_000228.3(LAMB3):c.3004C>T (p.Gln1002Ter)
NM_000228.3(LAMB3):c.3061_3063delinsAAAAGCTG (p.Val1021fs)
NM_000228.3(LAMB3):c.314del (p.Ser105fs)
NM_000228.3(LAMB3):c.3163del (p.Ala1055fs)
NM_000228.3(LAMB3):c.3190_3191delinsTA (p.Ala1064Ter)
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) rs777672897
NM_000228.3(LAMB3):c.3228+1G>A rs778026407
NM_000228.3(LAMB3):c.3305del (p.Gly1102fs)
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter) rs1553275195
NM_000228.3(LAMB3):c.3382+1G>A rs112988476
NM_000228.3(LAMB3):c.3383-1G>A rs1553275070
NM_000228.3(LAMB3):c.3394dup (p.Glu1132fs) rs786201004
NM_000228.3(LAMB3):c.3431C>A (p.Ser1144Ter) rs869320671
NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs) rs1553275034
NM_000228.3(LAMB3):c.3463_3475del (p.Glu1155fs)
NM_000228.3(LAMB3):c.3490C>T (p.Arg1164Cys)
NM_000228.3(LAMB3):c.372+2T>G rs1057516675
NM_000228.3(LAMB3):c.435_436del (p.Tyr146fs) rs1666824858
NM_000228.3(LAMB3):c.532C>T (p.Gln178Ter)
NM_000228.3(LAMB3):c.568C>T (p.Gln190Ter)
NM_000228.3(LAMB3):c.628+2T>A rs1666753666
NM_000228.3(LAMB3):c.655_656delinsTC (p.Val219Ser) rs1666739864
NM_000228.3(LAMB3):c.73del (p.Ala25fs)
NM_000228.3(LAMB3):c.81T>G (p.Tyr27Ter)
NM_000228.3(LAMB3):c.822+33G>C rs2072940
NM_000228.3(LAMB3):c.944-14C>G

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