ClinVar Miner

List of variants reported as likely benign for Mosaic variegated aneuploidy syndrome 2

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ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_014679.5(CEP57):c.886-7C>A rs150303764 0.00041
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe) rs139110744 0.00021
NM_014679.5(CEP57):c.46-10T>C rs540711314 0.00017
NM_014679.5(CEP57):c.501A>G (p.Lys167=) rs140524256 0.00014
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser) rs768269976 0.00012
NM_014679.5(CEP57):c.426A>G (p.Leu142=) rs148894464 0.00008
NM_014679.5(CEP57):c.540A>G (p.Thr180=) rs376792493 0.00007
NM_014679.5(CEP57):c.985A>G (p.Ser329Gly) rs193213400 0.00006
NM_014679.5(CEP57):c.1062C>T (p.Asn354=) rs377021503 0.00005
NM_014679.5(CEP57):c.1273-14G>A rs765062367 0.00004
NM_014679.5(CEP57):c.48C>T (p.Asn16=) rs974481023 0.00004
NM_014679.5(CEP57):c.808-6A>G rs372413990 0.00004
NM_014679.5(CEP57):c.885+18C>T rs765633450 0.00004
NM_014679.5(CEP57):c.1008A>G (p.Val336=) rs933546735 0.00003
NM_014679.5(CEP57):c.1128-10T>C rs754694620 0.00002
NM_014679.5(CEP57):c.46-8T>A rs755051766 0.00002
NM_014679.5(CEP57):c.633A>G (p.Gln211=) rs200535773 0.00002
NM_014679.5(CEP57):c.1078T>C (p.Leu360=) rs769977771 0.00001
NM_014679.5(CEP57):c.111A>G (p.Val37=) rs1400701790 0.00001
NM_014679.5(CEP57):c.1134C>T (p.His378=) rs1326479813 0.00001
NM_014679.5(CEP57):c.1164G>A (p.Ser388=) rs1463857205 0.00001
NM_014679.5(CEP57):c.1233A>G (p.Lys411=) rs753801234 0.00001
NM_014679.5(CEP57):c.123G>A (p.Ser41=) rs200083050 0.00001
NM_014679.5(CEP57):c.1272+12T>G rs768991658 0.00001
NM_014679.5(CEP57):c.1374G>A (p.Gly458=) rs1364380694 0.00001
NM_014679.5(CEP57):c.1377C>T (p.Thr459=) rs144292940 0.00001
NM_014679.5(CEP57):c.150A>C (p.Leu50=) rs190360114 0.00001
NM_014679.5(CEP57):c.174A>G (p.Thr58=) rs772710410 0.00001
NM_014679.5(CEP57):c.303A>G (p.Thr101=) rs775279360 0.00001
NM_014679.5(CEP57):c.36T>A (p.Ser12=) rs749098441 0.00001
NM_014679.5(CEP57):c.383-11A>T rs549865234 0.00001
NM_014679.5(CEP57):c.427T>C (p.Leu143=) rs899359299 0.00001
NM_014679.5(CEP57):c.46-9A>T rs780066541 0.00001
NM_014679.5(CEP57):c.471C>T (p.Ala157=) rs753111395 0.00001
NM_014679.5(CEP57):c.510C>G (p.Ser170=) rs201373134 0.00001
NM_014679.5(CEP57):c.51C>T (p.Ser17=) rs781312646 0.00001
NM_014679.5(CEP57):c.561A>G (p.Glu187=) rs1471190034 0.00001
NM_014679.5(CEP57):c.565T>C (p.Leu189=) rs759061888 0.00001
NM_014679.5(CEP57):c.621+7G>T rs1029266260 0.00001
NM_014679.5(CEP57):c.669A>G (p.Glu223=) rs751672542 0.00001
NM_014679.5(CEP57):c.732C>A (p.Ile244=) rs537497503 0.00001
NM_014679.5(CEP57):c.885+19G>A rs750852994 0.00001
NM_014679.5(CEP57):c.925C>T (p.Leu309Phe) rs548800686 0.00001
NM_014679.5(CEP57):c.1011T>G (p.Ser337=)
NM_014679.5(CEP57):c.1020T>C (p.Gly340=) rs1420610366
NM_014679.5(CEP57):c.1065T>C (p.Gly355=) rs1555053912
NM_014679.5(CEP57):c.1099T>C (p.Leu367=) rs759922227
NM_014679.5(CEP57):c.1104G>A (p.Gln368=) rs1590958462
NM_014679.5(CEP57):c.1127+11_1127+14del rs1862827042
NM_014679.5(CEP57):c.1128-16_1128-14del
NM_014679.5(CEP57):c.1128-17T>A
NM_014679.5(CEP57):c.1128-19A>G
NM_014679.5(CEP57):c.1128-4A>C rs1862886218
NM_014679.5(CEP57):c.1128-4A>G rs1862886218
NM_014679.5(CEP57):c.1137G>A (p.Gln379=) rs2135378484
NM_014679.5(CEP57):c.1170C>T (p.Thr390=) rs1262812878
NM_014679.5(CEP57):c.1179G>T (p.Leu393=)
NM_014679.5(CEP57):c.1201T>C (p.Leu401=)
NM_014679.5(CEP57):c.1206G>A (p.Glu402=)
NM_014679.5(CEP57):c.1209A>C (p.Ala403=) rs2135378884
NM_014679.5(CEP57):c.1236C>G (p.Ala412=)
NM_014679.5(CEP57):c.1272+10T>C rs2135379159
NM_014679.5(CEP57):c.1272+12_1272+13del
NM_014679.5(CEP57):c.1272+13T>G
NM_014679.5(CEP57):c.1323A>G (p.Lys441=)
NM_014679.5(CEP57):c.1329T>G (p.Thr443=) rs2135384084
NM_014679.5(CEP57):c.132T>C (p.Pro44=)
NM_014679.5(CEP57):c.1335T>C (p.Asp445=)
NM_014679.5(CEP57):c.1344A>G (p.Arg448=) rs2135384164
NM_014679.5(CEP57):c.1347C>T (p.Asn449=)
NM_014679.5(CEP57):c.138T>G (p.Leu46=) rs2135259669
NM_014679.5(CEP57):c.1392T>C (p.Asp464=) rs2135384405
NM_014679.5(CEP57):c.1404G>C (p.Leu468=) rs2135384476
NM_014679.5(CEP57):c.144T>C (p.Ser48=) rs952135399
NM_014679.5(CEP57):c.1455A>G (p.Gln485=)
NM_014679.5(CEP57):c.148C>T (p.Leu50=)
NM_014679.5(CEP57):c.1491T>C (p.Cys497=)
NM_014679.5(CEP57):c.15T>G (p.Ser5=) rs1860990343
NM_014679.5(CEP57):c.18C>G (p.Val6=)
NM_014679.5(CEP57):c.202+16G>A
NM_014679.5(CEP57):c.202+17A>C
NM_014679.5(CEP57):c.203-15G>A
NM_014679.5(CEP57):c.21T>C (p.Ser7=)
NM_014679.5(CEP57):c.247T>C (p.Leu83=)
NM_014679.5(CEP57):c.249G>A (p.Leu83=)
NM_014679.5(CEP57):c.33T>G (p.Gly11=)
NM_014679.5(CEP57):c.382+10_382+12del rs750802143
NM_014679.5(CEP57):c.382+14G>T
NM_014679.5(CEP57):c.382+9del
NM_014679.5(CEP57):c.383-10T>C
NM_014679.5(CEP57):c.383-15A>G
NM_014679.5(CEP57):c.417A>G (p.Lys139=) rs1248749562
NM_014679.5(CEP57):c.42G>A (p.Leu14=)
NM_014679.5(CEP57):c.438A>G (p.Gln146=)
NM_014679.5(CEP57):c.45+16C>T rs374203661
NM_014679.5(CEP57):c.45+17G>A
NM_014679.5(CEP57):c.45+17G>C
NM_014679.5(CEP57):c.451C>A (p.Arg151=) rs771182933
NM_014679.5(CEP57):c.46-10dup
NM_014679.5(CEP57):c.46-11T>C rs1298510341
NM_014679.5(CEP57):c.46-9A>C rs780066541
NM_014679.5(CEP57):c.504+19A>C rs777827395
NM_014679.5(CEP57):c.516A>G (p.Glu172=) rs772095352
NM_014679.5(CEP57):c.552C>T (p.Ser184=) rs765801435
NM_014679.5(CEP57):c.555A>G (p.Gln185=) rs773682444
NM_014679.5(CEP57):c.57T>A (p.Ala19=)
NM_014679.5(CEP57):c.622-12T>C
NM_014679.5(CEP57):c.63A>G (p.Pro21=) rs1861471358
NM_014679.5(CEP57):c.645A>G (p.Ala215=) rs2135342060
NM_014679.5(CEP57):c.654T>C (p.His218=)
NM_014679.5(CEP57):c.657A>G (p.Glu219=) rs142615007
NM_014679.5(CEP57):c.65C>T (p.Ser22Leu) rs554897859
NM_014679.5(CEP57):c.666G>A (p.Gln222=)
NM_014679.5(CEP57):c.699+7T>C
NM_014679.5(CEP57):c.700-19A>C
NM_014679.5(CEP57):c.700-4C>T rs2135351739
NM_014679.5(CEP57):c.711T>A (p.Gly237=) rs2135351805
NM_014679.5(CEP57):c.723T>C (p.Asn241=) rs76411609
NM_014679.5(CEP57):c.729T>C (p.Leu243=)
NM_014679.5(CEP57):c.753G>C (p.Pro251=) rs11742
NM_014679.5(CEP57):c.75T>C (p.Asn25=) rs770013483
NM_014679.5(CEP57):c.772A>C (p.Arg258=)
NM_014679.5(CEP57):c.798A>T (p.Pro266=)
NM_014679.5(CEP57):c.807+16C>A
NM_014679.5(CEP57):c.886-7C>T
NM_014679.5(CEP57):c.88C>A (p.Arg30=) rs749693319
NM_014679.5(CEP57):c.909G>A (p.Val303=) rs1862809034
NM_014679.5(CEP57):c.90G>C (p.Arg30=) rs560835162
NM_014679.5(CEP57):c.915C>G (p.Ala305=)
NM_014679.5(CEP57):c.915C>T (p.Ala305=)
NM_014679.5(CEP57):c.918T>C (p.Asn306=) rs984460249

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