ClinVar Miner

List of variants in gene MBD5 reported as uncertain significance by GeneDx

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Total variants: 59
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HGVS dbSNP
NM_018328.4(MBD5):c.1232C>T (p.Thr411Ile) rs535000990
NM_018328.4(MBD5):c.1234G>A (p.Val412Ile) rs761118931
NM_018328.4(MBD5):c.1327G>T (p.Val443Leu) rs137977565
NM_018328.4(MBD5):c.1417A>G (p.Met473Val) rs1064796951
NM_018328.4(MBD5):c.1419G>A (p.Met473Ile) rs1057524543
NM_018328.4(MBD5):c.1470_1478del (p.490_492PRS[1]) rs1553518587
NM_018328.4(MBD5):c.1963G>A (p.Ala655Thr) rs576930680
NM_018328.4(MBD5):c.1999T>A (p.Leu667Met) rs529715710
NM_018328.4(MBD5):c.19T>A (p.Cys7Ser) rs766104877
NM_018328.4(MBD5):c.2000T>G (p.Leu667Trp) rs796052711
NM_018328.4(MBD5):c.205A>G (p.Ile69Val) rs749163361
NM_018328.4(MBD5):c.2122A>G (p.Met708Val) rs796052721
NM_018328.4(MBD5):c.2122A>T (p.Met708Leu) rs796052721
NM_018328.4(MBD5):c.2196C>G (p.Cys732Trp) rs748328427
NM_018328.4(MBD5):c.2257C>A (p.Pro753Thr) rs370340010
NM_018328.4(MBD5):c.2399G>A (p.Gly800Asp) rs201668347
NM_018328.4(MBD5):c.2413A>C (p.Asn805His) rs796052712
NM_018328.4(MBD5):c.2431C>A (p.Pro811Thr) rs796052713
NM_018328.4(MBD5):c.2498A>T (p.Asn833Ile) rs1131691751
NM_018328.4(MBD5):c.2632C>A (p.Pro878Thr) rs752535474
NM_018328.4(MBD5):c.2632C>G (p.Pro878Ala) rs752535474
NM_018328.4(MBD5):c.2645A>T (p.Gln882Leu) rs151173122
NM_018328.4(MBD5):c.2828A>G (p.Gln943Arg) rs377062993
NM_018328.4(MBD5):c.2840G>A (p.Gly947Glu) rs114359726
NM_018328.4(MBD5):c.2903C>T (p.Ser968Leu) rs200985982
NM_018328.4(MBD5):c.2978A>C (p.Gln993Pro) rs761395486
NM_018328.4(MBD5):c.2981C>T (p.Ala994Val) rs773522192
NM_018328.4(MBD5):c.3032C>A (p.Ala1011Asp) rs1057522910
NM_018328.4(MBD5):c.3087C>G (p.Asn1029Lys) rs771343592
NM_018328.4(MBD5):c.3152C>T (p.Pro1051Leu) rs761872951
NM_018328.4(MBD5):c.3205C>A (p.Gln1069Lys) rs796052715
NM_018328.4(MBD5):c.3253G>A (p.Val1085Ile) rs199626531
NM_018328.4(MBD5):c.328G>A (p.Ala110Thr) rs1265044011
NM_018328.4(MBD5):c.3361A>G (p.Ser1121Gly) rs796052717
NM_018328.4(MBD5):c.3367A>G (p.Met1123Val) rs1057518375
NM_018328.4(MBD5):c.3376T>C (p.Phe1126Leu) rs796052718
NM_018328.4(MBD5):c.3385T>C (p.Ser1129Pro) rs200395037
NM_018328.4(MBD5):c.3389T>C (p.Ile1130Thr) rs748142226
NM_018328.4(MBD5):c.3422G>A (p.Ser1141Asn) rs763106823
NM_018328.4(MBD5):c.3439C>T (p.Arg1147Trp) rs142293829
NM_018328.4(MBD5):c.3440G>A (p.Arg1147Gln) rs368605084
NM_018328.4(MBD5):c.3493C>T (p.Arg1165Trp) rs558876535
NM_018328.4(MBD5):c.3539A>T (p.Asp1180Val) rs752035001
NM_018328.4(MBD5):c.3767G>A (p.Gly1256Glu) rs773267074
NM_018328.4(MBD5):c.3857G>A (p.Arg1286Lys) rs1057518363
NM_018328.4(MBD5):c.409G>A (p.Val137Ile) rs752962199
NM_018328.4(MBD5):c.4138C>T (p.Pro1380Ser) rs773779478
NM_018328.4(MBD5):c.422G>A (p.Arg141Gln) rs200245855
NM_018328.4(MBD5):c.4252G>A (p.Glu1418Lys) rs577955398
NM_018328.4(MBD5):c.4316G>A (p.Arg1439His) rs150519311
NM_018328.4(MBD5):c.4405T>C (p.Ser1469Pro) rs1131691294
NM_018328.4(MBD5):c.4458A>T (p.Lys1486Asn) rs1553523408
NM_018328.4(MBD5):c.488A>G (p.Glu163Gly) rs796052706
NM_018328.4(MBD5):c.520T>A (p.Ser174Thr) rs773716719
NM_018328.4(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_018328.4(MBD5):c.692T>C (p.Ile231Thr) rs199530726
NM_018328.4(MBD5):c.740C>T (p.Pro247Leu) rs796052707
NM_018328.4(MBD5):c.801C>G (p.His267Gln) rs747135508
NM_018328.4(MBD5):c.935A>T (p.Lys312Ile) rs146031838

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