ClinVar Miner

List of variants reported as benign for Tatton-Brown-Rahman overgrowth syndrome by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_175629.2(DNMT3A):c.-786T>C rs1550117 0.91538
NM_022552.5(DNMT3A):c.1122+7G>A rs2276599 0.69165
NM_022552.5(DNMT3A):c.1266G>A (p.Leu422=) rs2276598 0.21245
NM_022552.5(DNMT3A):c.27C>T (p.Pro9=) rs41284843 0.08237
NM_022552.5(DNMT3A):c.1140G>A (p.Ala380=) rs77345627 0.01450
NM_022552.5(DNMT3A):c.759C>T (p.Pro253=) rs77558739 0.00759
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala) rs143730975 0.00459
NM_022552.5(DNMT3A):c.1280-7C>T rs151060791 0.00458
NM_022552.5(DNMT3A):c.1279+18G>A rs199507359 0.00322
NM_022552.5(DNMT3A):c.801C>T (p.Ser267=) rs116609083 0.00237
NM_022552.5(DNMT3A):c.1430-13C>T rs200380351 0.00180
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.72+10G>A rs370534287 0.00064
NM_022552.5(DNMT3A):c.1443C>T (p.Tyr481=) rs145465364 0.00038
NM_022552.5(DNMT3A):c.2652G>A (p.Ala884=) rs537647207 0.00004
NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=) rs763189481 0.00003
NM_022552.5(DNMT3A):c.120G>A (p.Glu40=) rs202118149 0.00001
NM_022552.5(DNMT3A):c.187G>A (p.Gly63Ser) rs781108426 0.00001
NM_022552.5(DNMT3A):c.1015-3del

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