ClinVar Miner

List of variants in gene DNMT3A reported as likely benign for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_022552.5(DNMT3A):c.759C>T (p.Pro253=) rs77558739 0.00759
NM_022552.5(DNMT3A):c.801C>T (p.Ser267=) rs116609083 0.00237
NM_022552.5(DNMT3A):c.1170C>T (p.Ser390=) rs150182473 0.00138
NM_022552.5(DNMT3A):c.2688A>G (p.Pro896=) rs181757577 0.00123
NM_022552.5(DNMT3A):c.2151C>T (p.Asn717=) rs141216815 0.00068
NM_022552.5(DNMT3A):c.1443C>T (p.Tyr481=) rs145465364 0.00038
NM_022552.5(DNMT3A):c.1155G>A (p.Pro385=) rs368009374 0.00020
NM_022552.5(DNMT3A):c.1164C>T (p.His388=) rs138150208 0.00018
NM_022552.5(DNMT3A):c.1677C>T (p.Cys559=) rs775908350 0.00013
NM_022552.5(DNMT3A):c.2697C>T (p.Arg899=) rs61758432 0.00013
NM_022552.5(DNMT3A):c.2658G>A (p.Gln886=) rs375544980 0.00011
NM_022552.5(DNMT3A):c.2331T>C (p.Pro777=) rs758014471 0.00009
NM_022552.5(DNMT3A):c.1344C>T (p.Tyr448=) rs137931376 0.00007
NM_022552.5(DNMT3A):c.1074G>A (p.Thr358=) rs200905691 0.00006
NM_022552.5(DNMT3A):c.1575G>A (p.Ala525=) rs771486108 0.00005
NM_022552.5(DNMT3A):c.2601A>C (p.Val867=) rs141606269 0.00004
NM_022552.5(DNMT3A):c.2628C>T (p.Asp876=) rs368516543 0.00004
NM_022552.5(DNMT3A):c.2652G>A (p.Ala884=) rs537647207 0.00004
NM_022552.5(DNMT3A):c.2712G>A (p.Pro904=) rs538669211 0.00004
NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=) rs763189481 0.00003
NM_022552.5(DNMT3A):c.1929C>T (p.Ile643=) rs906581890 0.00001
NM_022552.5(DNMT3A):c.2232G>A (p.Lys744=) rs944224150 0.00001
NM_022552.5(DNMT3A):c.1041G>A (p.Leu347=)
NM_022552.5(DNMT3A):c.1080C>T (p.Asn360=)
NM_022552.5(DNMT3A):c.1110C>T (p.Tyr370=)
NM_022552.5(DNMT3A):c.1140G>C (p.Ala380=)
NM_022552.5(DNMT3A):c.1239C>T (p.Gly413=)
NM_022552.5(DNMT3A):c.1242C>T (p.Phe414=)
NM_022552.5(DNMT3A):c.1287G>A (p.Lys429=)
NM_022552.5(DNMT3A):c.1383A>G (p.Thr461=)
NM_022552.5(DNMT3A):c.1413T>C (p.Ile471=)
NM_022552.5(DNMT3A):c.1527C>T (p.Phe509=)
NM_022552.5(DNMT3A):c.1545A>G (p.Gln515=)
NM_022552.5(DNMT3A):c.1587C>T (p.Asp529=)
NM_022552.5(DNMT3A):c.1590C>T (p.Asp530=)
NM_022552.5(DNMT3A):c.1593C>T (p.Asp531=)
NM_022552.5(DNMT3A):c.1611C>T (p.Cys537=)
NM_022552.5(DNMT3A):c.1626G>T (p.Gly542=)
NM_022552.5(DNMT3A):c.1716C>G (p.Ala572=)
NM_022552.5(DNMT3A):c.1716C>T (p.Ala572=)
NM_022552.5(DNMT3A):c.1758C>T (p.Cys586=)
NM_022552.5(DNMT3A):c.1809C>T (p.Ser603=)
NM_022552.5(DNMT3A):c.1812G>A (p.Arg604=)
NM_022552.5(DNMT3A):c.1827C>T (p.Phe609=)
NM_022552.5(DNMT3A):c.1839C>T (p.His613=)
NM_022552.5(DNMT3A):c.1860A>G (p.Pro620=)
NM_022552.5(DNMT3A):c.1899C>T (p.Pro633=)
NM_022552.5(DNMT3A):c.1911G>A (p.Leu637=)
NM_022552.5(DNMT3A):c.2103C>T (p.Phe701=)
NM_022552.5(DNMT3A):c.2211C>G (p.Leu737=)
NM_022552.5(DNMT3A):c.2310G>A (p.Ser770=)
NM_022552.5(DNMT3A):c.2397C>T (p.Pro799=)
NM_022552.5(DNMT3A):c.2412G>A (p.Pro804=)
NM_022552.5(DNMT3A):c.2631C>T (p.Val877=)
NM_022552.5(DNMT3A):c.2659A>C (p.Arg887=) rs755252969
NM_022552.5(DNMT3A):c.2682C>T (p.Ser894=)
NM_022552.5(DNMT3A):c.2706C>T (p.Phe902=)
NM_022552.5(DNMT3A):c.696G>A (p.Gly232=)
NM_022552.5(DNMT3A):c.783G>A (p.Thr261=)
NM_022552.5(DNMT3A):c.948G>C (p.Thr316=)
NM_022552.5(DNMT3A):c.972C>T (p.Gly324=)
NM_022552.5(DNMT3A):c.999C>T (p.Asp333=)

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