ClinVar Miner

List of variants reported as uncertain significance for Amelogenesis Imperfecta, Recessive

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_182758.4(WDR72):c.3254-7T>G rs17630660 0.04844
NM_182758.4(WDR72):c.942G>T (p.Val314=) rs12905755 0.03719
NM_004771.4(MMP20):c.954-15_954-14del rs1491264939 0.00504
NM_182758.4(WDR72):c.*1218T>A rs115655160 0.00444
NM_182758.4(WDR72):c.*260del rs536038929 0.00256
NM_182758.4(WDR72):c.*2849G>T rs189694115 0.00249
NM_182758.4(WDR72):c.*1099G>C rs547196239 0.00210
NM_182758.4(WDR72):c.*96T>C rs149722292 0.00068
NM_182758.4(WDR72):c.*1509G>C rs776180210 0.00022
NM_182758.4(WDR72):c.*2667A>G rs201198446 0.00014
NM_004771.4(MMP20):c.*465A>G rs886047543 0.00005
NM_182758.4(WDR72):c.*1940A>T rs886051291 0.00004
NM_004771.4(MMP20):c.954-11del rs886047546
NM_004771.4(MMP20):c.954-13del rs886047547
NM_182758.4(WDR72):c.*2591_*2592dup rs1555402423
NM_182758.4(WDR72):c.*2592T[5]GT[1] rs5812689
NM_182758.4(WDR72):c.*2592_*2593insTTGT rs5812689
NM_182758.4(WDR72):c.*2592_*2593insTTGTGTGT rs5812689
NM_182758.4(WDR72):c.*2592_*2593insTTGTGTGTGT rs5812689
NM_182758.4(WDR72):c.*2593GT[11] rs1555402422
NM_182758.4(WDR72):c.*2593GT[12] rs1555402422
NM_182758.4(WDR72):c.*2593GT[13] rs1555402422
NM_182758.4(WDR72):c.*2593GT[14] rs1555402422
NM_182758.4(WDR72):c.*2593GT[15] rs1555402422
NM_182758.4(WDR72):c.*2608_*2609insATAT rs886051289
NM_182758.4(WDR72):c.*2611_*2612insCACACA rs1555402418
NM_182758.4(WDR72):c.*2613_*2614insCACACATA rs886051287
NM_182758.4(WDR72):c.*2616C>T rs116990736
NM_182758.4(WDR72):c.*2622T>C rs886051286
NM_182758.4(WDR72):c.*2633G>A rs886051285
NM_182758.4(WDR72):c.*2644C>T rs796396291
NM_182758.4(WDR72):c.*2650TA[5] rs777102975
NM_182758.4(WDR72):c.*2657_*2658insTACACATATATATGTGTGTATATATATACACACATATATATA rs1555402394
NM_182758.4(WDR72):c.*2673G>A rs7175439
NM_182758.4(WDR72):c.*2674_*2675insGTATAT rs1555402376
NM_182758.4(WDR72):c.*2675AT[10] rs201133545
NM_182758.4(WDR72):c.*2675AT[11] rs201133545
NM_182758.4(WDR72):c.*2675AT[12] rs201133545
NM_182758.4(WDR72):c.*2675AT[9] rs201133545
NM_182758.4(WDR72):c.*2676_*2677insGT rs886051283
NM_182758.4(WDR72):c.*2739_*2742dup rs886051282
NM_182758.4(WDR72):c.*452_*456del rs796948790
NM_182758.4(WDR72):c.3149-30CT[10] rs57737580
NM_182758.4(WDR72):c.3149-30CT[12] rs57737580
NM_182758.4(WDR72):c.3149-30CT[14] rs57737580

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