ClinVar Miner

List of variants reported as likely benign for Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_003482.4(KMT2D):c.14643+3A>T rs374232950 0.00011
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn) rs587778463 0.00009
NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys) rs766543419 0.00009
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108 0.00007
NM_003482.4(KMT2D):c.15686G>A (p.Arg5229His) rs201628357 0.00006
NM_003482.4(KMT2D):c.3134C>T (p.Pro1045Leu) rs376896214 0.00006
NM_003482.4(KMT2D):c.10472G>A (p.Arg3491His) rs757247893 0.00005
NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val) rs372740284 0.00004
NM_003482.4(KMT2D):c.13559C>T (p.Pro4520Leu) rs374531508 0.00004
NM_003482.4(KMT2D):c.15499A>G (p.Ser5167Gly) rs752976776 0.00004
NM_003482.4(KMT2D):c.6323C>T (p.Pro2108Leu) rs774739665 0.00004
NM_003482.4(KMT2D):c.9499C>T (p.Arg3167Trp) rs370155635 0.00004
NM_003482.4(KMT2D):c.3872G>A (p.Arg1291Gln) rs369794887 0.00003
NM_003482.4(KMT2D):c.6440C>T (p.Ala2147Val) rs764604229 0.00003
NM_003482.4(KMT2D):c.11120G>A (p.Arg3707Gln) rs587778477 0.00002
NM_003482.4(KMT2D):c.13568A>G (p.Lys4523Arg) rs752523300 0.00002
NM_003482.4(KMT2D):c.2785C>T (p.Leu929=) rs745396055 0.00002
NM_003482.4(KMT2D):c.7572G>A (p.Thr2524=) rs772878105 0.00002
NM_003482.4(KMT2D):c.9431C>T (p.Ala3144Val) rs558965718 0.00002
NM_003482.4(KMT2D):c.13645G>A (p.Glu4549Lys) rs1238014538 0.00001
NM_003482.4(KMT2D):c.15622G>A (p.Val5208Met) rs756218008 0.00001
NM_003482.4(KMT2D):c.3647C>A (p.Ala1216Asp) rs930578096 0.00001
NM_003482.4(KMT2D):c.6769G>A (p.Val2257Met) rs775131102 0.00001
NM_003482.4(KMT2D):c.757G>A (p.Gly253Arg) rs775185224 0.00001
NM_003482.4(KMT2D):c.8764C>T (p.Arg2922Trp) rs751964761 0.00001
NM_003482.4(KMT2D):c.11594A>G (p.Gln3865Arg)
NM_003482.4(KMT2D):c.11819_11836dup (p.Leu3940_Gln3945dup) rs1160407199
NM_003482.4(KMT2D):c.11823ACA[1] (p.Gln3947del)
NM_003482.4(KMT2D):c.11843_11860del (p.Leu3948_Gln3953del) rs762810380
NM_003482.4(KMT2D):c.11864_11893del (p.Leu3955_Gln3964del) rs886042299
NM_003482.4(KMT2D):c.12650AGC[6] (p.Gln4221dup) rs754290613
NM_003482.4(KMT2D):c.12999G>C (p.Glu4333Asp)
NM_003482.4(KMT2D):c.13331G>C (p.Gly4444Ala) rs748820389
NM_003482.4(KMT2D):c.14206G>T (p.Ala4736Ser)
NM_003482.4(KMT2D):c.145C>A (p.Pro49Thr)
NM_003482.4(KMT2D):c.1898C>T (p.Ser633Leu)
NM_003482.4(KMT2D):c.2383_2409dup (p.Glu803_Leu804insProHisLeuSerProGlnProGluGlu)
NM_003482.4(KMT2D):c.2534G>A (p.Arg845Gln)
NM_003482.4(KMT2D):c.2752T>G (p.Ser918Ala)
NM_003482.4(KMT2D):c.3358G>A (p.Glu1120Lys)
NM_003482.4(KMT2D):c.3841G>A (p.Gly1281Arg)
NM_003482.4(KMT2D):c.4007T>C (p.Ile1336Thr)
NM_003482.4(KMT2D):c.4021-7C>G
NM_003482.4(KMT2D):c.5934C>T (p.Gly1978=) rs2120554214
NM_003482.4(KMT2D):c.6578C>T (p.Pro2193Leu)
NM_003482.4(KMT2D):c.6826C>T (p.Pro2276Ser)
NM_003482.4(KMT2D):c.7838C>T (p.Pro2613Leu)
NM_003482.4(KMT2D):c.8894A>G (p.Asn2965Ser)

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