ClinVar Miner

List of variants in gene DNMT3A reported as pathogenic for not provided

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) rs144689354 0.00006
NM_022552.5(DNMT3A):c.2711C>T (p.Pro904Leu) rs149095705 0.00006
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter) rs779626155 0.00004
NM_022552.5(DNMT3A):c.2207G>A (p.Arg736His) rs139293773 0.00003
NM_022552.5(DNMT3A):c.2309C>T (p.Ser770Leu) rs758845779 0.00003
NM_022552.5(DNMT3A):c.1792C>T (p.Arg598Ter) rs568207978 0.00002
NM_022552.5(DNMT3A):c.2206C>T (p.Arg736Cys) rs761934754 0.00002
NM_022552.5(DNMT3A):c.958C>T (p.Arg320Ter) rs778270132 0.00002
NM_022552.5(DNMT3A):c.1748G>A (p.Cys583Tyr) rs748082838 0.00001
NM_022552.5(DNMT3A):c.1937-2A>G rs770305758 0.00001
NM_022552.5(DNMT3A):c.2063G>A (p.Arg688His) rs369713081 0.00001
NM_022552.5(DNMT3A):c.2478+1G>A rs762213449 0.00001
GRCh37/hg19 2p23.3(chr2:25464105-25581265)x1
NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg) rs2149307214
NM_022552.5(DNMT3A):c.1015-3_1015-1delinsAA rs1553413823
NM_022552.5(DNMT3A):c.1028del (p.Lys343fs)
NM_022552.5(DNMT3A):c.1044del (p.Ser349fs)
NM_022552.5(DNMT3A):c.1346del (p.Ala449fs) rs2149300394
NM_022552.5(DNMT3A):c.1374del (p.Lys459fs) rs886041641
NM_022552.5(DNMT3A):c.1555-1G>T
NM_022552.5(DNMT3A):c.1608C>G (p.Tyr536Ter) rs370376334
NM_022552.5(DNMT3A):c.1628G>A (p.Gly543Asp) rs767226511
NM_022552.5(DNMT3A):c.1643T>C (p.Met548Thr) rs587777509
NM_022552.5(DNMT3A):c.1648G>A (p.Gly550Arg) rs763336898
NM_022552.5(DNMT3A):c.176dup (p.Val60fs) rs769876640
NM_022552.5(DNMT3A):c.1802G>A (p.Trp601Ter)
NM_022552.5(DNMT3A):c.1851+1G>C rs928051436
NM_022552.5(DNMT3A):c.2048_2053delinsC (p.Tyr683fs)
NM_022552.5(DNMT3A):c.2146G>A (p.Val716Ile) rs1418039680
NM_022552.5(DNMT3A):c.2162_2168del (p.Lys721fs) rs1573313314
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) rs147828672
NM_022552.5(DNMT3A):c.2469dup (p.Ile824fs) rs1200243711
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022552.5(DNMT3A):c.2726T>C (p.Phe909Ser) rs1673065619
NM_022552.5(DNMT3A):c.27dup (p.Gly10fs)
NM_022552.5(DNMT3A):c.340dup (p.Ala114fs) rs1553423604
NM_022552.5(DNMT3A):c.417del (p.Lys140fs)
NM_022552.5(DNMT3A):c.617G>A (p.Trp206Ter) rs1558697970
NM_022552.5(DNMT3A):c.890G>A (p.Trp297Ter) rs944608317
NM_022552.5(DNMT3A):c.892G>C (p.Gly298Arg)
NM_022552.5(DNMT3A):c.901C>T (p.Arg301Trp) rs1553414070
NM_022552.5(DNMT3A):c.911_913del (p.Ser304del) rs1674984864

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