ClinVar Miner

List of variants studied for amelogenesis imperfecta type 1A by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
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.-72C>A rs543183724
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.1357del (p.Cys453fs)
NM_000228.3(LAMB3):c.1410del (p.His469_Trp470insTer)
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.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.3383-1G>A rs1553275070
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.73del (p.Ala25fs)
NM_000228.3(LAMB3):c.81T>G (p.Tyr27Ter)

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