ClinVar Miner

List of variants studied for dental enamel hypoplasia by Genome-Nilou Lab

Included ClinVar conditions (28):
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ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_182758.4(WDR72):c.298A>G (p.Met100Val) rs690346 0.95957
NM_182758.4(WDR72):c.955-43C>A rs690235 0.95246
NM_000228.3(LAMB3):c.823-15C>T rs4844863 0.84219
NM_198488.5(FAM83H):c.1827C>T (p.Tyr609=) rs13254035 0.81988
NM_000228.3(LAMB3):c.1716T>C (p.Cys572=) rs2179402 0.74805
NM_182758.4(WDR72):c.339+9A>G rs690337 0.73805
NM_017565.4(FAM20A):c.1589T>C (p.Leu530Ser) rs2907373 0.72701
NM_004771.4(MMP20):c.53A>C (p.Lys18Thr) rs2245803 0.64460
NM_198488.5(FAM83H):c.2884C>T (p.Leu962=) rs11136321 0.60606
NM_182758.4(WDR72):c.1407T>C (p.Tyr469=) rs6416452 0.59102
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_182758.4(WDR72):c.917C>T (p.Pro306Leu) rs551225 0.37615
NM_000228.3(LAMB3):c.384C>T (p.Pro128=) rs1130667 0.30741
NM_017565.4(FAM20A):c.996C>A (p.Asn332Lys) rs2302234 0.30437
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_182758.4(WDR72):c.2455C>T (p.Leu819Phe) rs17730281 0.21505
NM_005220.3(DLX3):c.402G>A (p.Thr134=) rs2303466 0.18221
NM_005220.3(DLX3):c.516+23C>T rs2303467 0.18199
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_198488.5(FAM83H):c.1493C>T (p.Pro498Leu) rs1137806 0.11038
NM_005220.3(DLX3):c.138C>T (p.Pro46=) rs33937843 0.08182
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.1289-186G>A rs61822212
NM_000228.3(LAMB3):c.822+33G>C rs2072940
NM_000888.5(ITGB6):c.2269-5del rs5835793
NM_182758.4(WDR72):c.261-8del rs34828731
NM_182758.4(WDR72):c.2872+42del rs34829468

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