ClinVar Miner

List of variants studied for Amelogenesis Imperfecta, Recessive

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Total variants: 80
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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.*1054C>T rs8026294 0.94037
NM_182758.4(WDR72):c.*1932T>G rs7180991 0.94018
NM_182758.4(WDR72):c.*2497G>A rs4633660 0.91856
NM_182758.4(WDR72):c.*1898G>A rs7181293 0.91797
NM_182758.4(WDR72):c.339+9A>G rs690337 0.73805
NM_182758.4(WDR72):c.1407T>C (p.Tyr469=) rs6416452 0.59102
NM_182758.4(WDR72):c.*2808G>T rs7175105 0.53251
NM_182758.4(WDR72):c.*1739G>A rs8041208 0.37656
NM_182758.4(WDR72):c.917C>T (p.Pro306Leu) rs551225 0.37615
NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe) rs17730281 0.21505
NM_182758.4(WDR72):c.*1279G>C rs3206108 0.16804
NM_182758.4(WDR72):c.*2356C>T rs3088091 0.16638
NM_182758.4(WDR72):c.2497T>G (p.Ser833Ala) rs16966320 0.14043
NM_182758.4(WDR72):c.2341A>G (p.Lys781Glu) rs60404950 0.13988
NM_182758.4(WDR72):c.2724A>G (p.Leu908=) rs16966318 0.13977
NM_182758.4(WDR72):c.*1734T>C rs72745124 0.09075
NM_182758.4(WDR72):c.*3114A>G rs72745122 0.09038
NM_182758.4(WDR72):c.*1533C>T rs7182198 0.07198
NM_182758.4(WDR72):c.-7G>A rs496290 0.06705
NM_182758.4(WDR72):c.*572C>G rs16966157 0.06024
NM_182758.4(WDR72):c.*3936G>A rs6493630 0.05998
NM_182758.4(WDR72):c.*1145T>G rs74015392 0.04869
NM_182758.4(WDR72):c.3254-7T>G rs17630660 0.04844
NM_182758.4(WDR72):c.*3742G>C rs79708164 0.04402
NM_182758.4(WDR72):c.942G>T (p.Val314=) rs12905755 0.03719
NM_182758.4(WDR72):c.*1478A>T rs76317515 0.03355
NM_182758.4(WDR72):c.*993T>A rs78118351 0.03342
NM_182758.4(WDR72):c.*499G>T rs74015396 0.03211
NM_182758.4(WDR72):c.*2675A>G rs181220553 0.01437
NM_182758.4(WDR72):c.1839G>A (p.Val613=) rs78493456 0.01140
NM_182758.4(WDR72):c.*3164T>C rs143400580 0.00505
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_004771.4(MMP20):c.954-16_954-15del rs144425539
NM_182758.4(WDR72):c.*1664G>T rs10518724
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_*2593insTTGTGT 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.261-8del rs34828731
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[13] rs57737580
NM_182758.4(WDR72):c.3149-30CT[14] rs57737580

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