ClinVar Miner

List of variants in gene DNMT3B studied for Immunodeficiency-centromeric instability-facial anomalies syndrome 1

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Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_006892.4(DNMT3B):c.*827A>G rs2424932 0.71093
NM_006892.4(DNMT3B):c.1906-5T>C rs2424928 0.58051
NM_006892.4(DNMT3B):c.1760-5C>G rs1997797 0.55509
NM_006892.4(DNMT3B):c.1252+13T>G rs910085 0.42898
NM_006892.4(DNMT3B):c.*443C>T rs6058896 0.07771
NM_006892.4(DNMT3B):c.1881C>T (p.Asp627=) rs17123657 0.05837
NM_006892.4(DNMT3B):c.1878C>T (p.Asn626=) rs17123655 0.02475
NM_006892.4(DNMT3B):c.1996+6C>T rs77355896 0.01863
NM_006892.4(DNMT3B):c.1413C>T (p.Asp471=) rs6119965 0.01256
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_006892.4(DNMT3B):c.*75C>G rs6119971 0.00868
NM_006892.4(DNMT3B):c.*895T>C rs116329759 0.00684
NM_006892.4(DNMT3B):c.*942A>T rs55901282 0.00421
NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu) rs147945634 0.00185
NM_006892.4(DNMT3B):c.*55G>T rs148465200 0.00153
NM_006892.4(DNMT3B):c.1996+9C>T rs143448185 0.00128
NM_006892.4(DNMT3B):c.*560C>T rs151015070 0.00093
NM_006892.4(DNMT3B):c.886G>A (p.Val296Ile) rs145632647 0.00091
NM_006892.4(DNMT3B):c.73G>A (p.Gly25Arg) rs151128145 0.00079
NM_006892.4(DNMT3B):c.922-8C>T rs200508870 0.00076
NM_006892.4(DNMT3B):c.1144C>T (p.Arg382Cys) rs35846833 0.00071
NM_006892.4(DNMT3B):c.433-13C>T rs182618840 0.00063
NM_006892.4(DNMT3B):c.143-8C>T rs200349528 0.00053
NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=) rs143847495 0.00045
NM_006892.4(DNMT3B):c.2529C>T (p.Phe843=) rs147402935 0.00044
NM_006892.4(DNMT3B):c.*113G>A rs563626929 0.00043
NM_006892.4(DNMT3B):c.1035C>T (p.Ile345=) rs150148922 0.00041
NM_006892.4(DNMT3B):c.1219G>A (p.Gly407Ser) rs148646143 0.00034
NM_006892.4(DNMT3B):c.*1336G>A rs532308734 0.00032
NM_006892.4(DNMT3B):c.*101G>A rs576264538 0.00028
NM_006892.4(DNMT3B):c.42C>T (p.Ala14=) rs730823 0.00027
NM_006892.4(DNMT3B):c.*832T>C rs753244931 0.00023
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys) rs143462810 0.00023
NM_006892.4(DNMT3B):c.*1132C>T rs756101113 0.00021
NM_006892.4(DNMT3B):c.*654G>A rs967384538 0.00018
NM_006892.4(DNMT3B):c.307-15C>G rs150718732 0.00018
NM_006892.4(DNMT3B):c.1126+15T>C rs150368389 0.00016
NM_006892.4(DNMT3B):c.*1350G>C rs563126581 0.00014
NM_006892.4(DNMT3B):c.*1405C>T rs547367297 0.00010
NM_006892.4(DNMT3B):c.115G>C (p.Glu39Gln) rs374913902 0.00010
NM_006892.4(DNMT3B):c.1804G>A (p.Val602Ile) rs752495145 0.00010
NM_006892.4(DNMT3B):c.592G>T (p.Gly198Trp) rs61758433 0.00010
NM_006892.4(DNMT3B):c.*930G>A rs764293630 0.00008
NM_006892.4(DNMT3B):c.336C>T (p.Ser112=) rs199763590 0.00008
NM_006892.4(DNMT3B):c.720C>T (p.Pro240=) rs200921151 0.00007
NM_006892.4(DNMT3B):c.*1076C>T rs779656204 0.00006
NM_006892.4(DNMT3B):c.*1332C>T rs754924547 0.00006
NM_006892.4(DNMT3B):c.*312C>G rs1002133930 0.00006
NM_006892.4(DNMT3B):c.*90T>G rs886056619 0.00006
NM_006892.4(DNMT3B):c.143-9C>G rs377138079 0.00006
NM_006892.4(DNMT3B):c.1996+7A>G rs556202476 0.00006
NM_006892.4(DNMT3B):c.1297+10T>C rs146299831 0.00005
NM_006892.4(DNMT3B):c.1330G>A (p.Val444Met) rs201465442 0.00005
NM_006892.4(DNMT3B):c.*183C>T rs886056620 0.00004
NM_006892.4(DNMT3B):c.*602C>T rs1053096580 0.00004
NM_006892.4(DNMT3B):c.1490+9T>C rs370659978 0.00004
NM_006892.4(DNMT3B):c.408C>T (p.Ser136=) rs111877243 0.00004
NM_006892.4(DNMT3B):c.102G>A (p.Ser34=) rs564154904 0.00003
NM_006892.4(DNMT3B):c.274C>T (p.Arg92Trp) rs149520896 0.00003
NM_006892.4(DNMT3B):c.684C>T (p.Leu228=) rs373811098 0.00003
NM_006892.4(DNMT3B):c.*765G>A rs1172170021 0.00002
NM_006892.4(DNMT3B):c.1139G>A (p.Arg380Gln) rs148132847 0.00002
NM_006892.4(DNMT3B):c.516C>T (p.Asp172=) rs202113400 0.00002
NM_006892.4(DNMT3B):c.539C>T (p.Thr180Met) rs537913125 0.00002
NM_006892.4(DNMT3B):c.810C>T (p.Ser270=) rs140518698 0.00002
NM_006892.4(DNMT3B):c.*112C>A rs542048406 0.00001
NM_006892.4(DNMT3B):c.*70G>A rs886056618 0.00001
NM_006892.4(DNMT3B):c.*754G>A rs886056624 0.00001
NM_006892.4(DNMT3B):c.132G>A (p.Pro44=) rs138805251 0.00001
NM_006892.4(DNMT3B):c.1376G>A (p.Arg459Gln) rs771769549 0.00001
NM_006892.4(DNMT3B):c.142+3G>A rs779770844 0.00001
NM_006892.4(DNMT3B):c.1490+8C>G rs746731138 0.00001
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr) rs121908943 0.00001
NM_006892.4(DNMT3B):c.2164G>A (p.Asp722Asn) rs1056119394 0.00001
NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs) rs1368779496 0.00001
NM_006892.4(DNMT3B):c.2421-11G>A rs547940069 0.00001
NM_006892.4(DNMT3B):c.2421-4C>T rs766802588 0.00001
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) rs201579632 0.00001
NM_006892.4(DNMT3B):c.2506G>A (p.Val836Met) rs866792483 0.00001
NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln) rs121908946 0.00001
NM_006892.4(DNMT3B):c.341G>A (p.Arg114Gln) rs546278202 0.00001
NM_006892.4(DNMT3B):c.895C>A (p.Arg299=) rs201067137 0.00001
DNMT3B, 1-BP INS, CODON 53
DNMT3B, EX21-22DEL
DNMT3B, LEU656THR
NM_006892.4(DNMT3B):c.*1064del rs550022433
NM_006892.4(DNMT3B):c.*1318del rs398088406
NM_006892.4(DNMT3B):c.*245dup rs886056621
NM_006892.4(DNMT3B):c.*299del rs3215552
NM_006892.4(DNMT3B):c.*577C>T rs886056623
NM_006892.4(DNMT3B):c.*747C>T rs553256979
NM_006892.4(DNMT3B):c.*763A>G rs535281176
NM_006892.4(DNMT3B):c.1084G>T (p.Val362Leu) rs886056614
NM_006892.4(DNMT3B):c.1208_1209delinsAT (p.Cys403Tyr) rs1568850004
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser) rs150736372
NM_006892.4(DNMT3B):c.1359G>A (p.Gly453=) rs35216603
NM_006892.4(DNMT3B):c.158C>T (p.Ser53Leu) rs544561079
NM_006892.4(DNMT3B):c.1760-8C>G rs2424926
NM_006892.4(DNMT3B):c.1760-8C>T rs2424926
NM_006892.4(DNMT3B):c.1760-9C>T rs886056615
NM_006892.4(DNMT3B):c.1791G>A (p.Lys597=) rs1981150796
NM_006892.4(DNMT3B):c.1860G>C (p.Gly620=) rs886056616
NM_006892.4(DNMT3B):c.1987G>A (p.Gly663Ser) rs121908942
NM_006892.4(DNMT3B):c.2172C>G (p.Ile724Met) rs1981465098
NM_006892.4(DNMT3B):c.2184T>C (p.Ala728=) rs1981468109
NM_006892.4(DNMT3B):c.2237T>G (p.Val746Gly) rs121908944
NM_006892.4(DNMT3B):c.2262_2267del (p.Glu755_Leu756del)
NM_006892.4(DNMT3B):c.2292G>T (p.Arg764Ser) rs759448571
NM_006892.4(DNMT3B):c.2311G>A (p.Val771Ile) rs886056617
NM_006892.4(DNMT3B):c.2441A>G (p.His814Arg)
NM_006892.4(DNMT3B):c.2450A>G (p.Asp817Gly) rs121908939
NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met) rs121908940
NM_006892.4(DNMT3B):c.2467C>G (p.Arg823Gly) rs2146098171
NM_006892.4(DNMT3B):c.437T>C (p.Leu146Pro) rs1161625162
NM_006892.4(DNMT3B):c.808T>C (p.Ser270Pro) rs121908947
NM_006892.4(DNMT3B):c.88C>T (p.Gln30Ter) rs121908945
NM_006892.4(DNMT3B):c.904A>G (p.Met302Val) rs768136416
NM_006892.4(DNMT3B):c.921+13G>A rs1979990258
NM_006892.4(DNMT3B):c.960C>A (p.Ser320Arg) rs886056613

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