ClinVar Miner

List of variants reported as uncertain significance for Wiedemann-Steiner syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.11006A>G (p.Lys3669Arg) rs144844866 0.00013
NM_001197104.2(KMT2A):c.6632G>A (p.Arg2211Gln) rs140529566 0.00004
NM_001197104.2(KMT2A):c.2327T>C (p.Val776Ala) rs782746928 0.00003
NM_001197104.2(KMT2A):c.2600G>A (p.Ser867Asn) rs782215946 0.00003
NM_001197104.2(KMT2A):c.2405C>G (p.Ser802Cys) rs782623689 0.00002
NM_001197104.2(KMT2A):c.6650G>A (p.Arg2217Lys) rs782483583 0.00002
NM_001197104.2(KMT2A):c.9379C>T (p.Pro3127Ser) rs1461830365 0.00002
NM_001197104.2(KMT2A):c.2929G>A (p.Gly977Ser) rs782439084 0.00001
NM_001197104.2(KMT2A):c.3413A>G (p.Asn1138Ser) rs1031671823 0.00001
NM_001197104.2(KMT2A):c.4933A>G (p.Ile1645Val) rs377485215 0.00001
NM_001197104.2(KMT2A):c.5176G>A (p.Val1726Met) rs1185271064 0.00001
NM_001197104.2(KMT2A):c.6374C>T (p.Pro2125Leu) rs782226750 0.00001
NM_001197104.2(KMT2A):c.6563C>G (p.Ser2188Cys) rs1555045999 0.00001
NM_001197104.2(KMT2A):c.694A>G (p.Lys232Glu) rs1555035596 0.00001
NM_001197104.2(KMT2A):c.7451A>G (p.Asn2484Ser) rs782475453 0.00001
NM_001197104.2(KMT2A):c.9635C>T (p.Thr3212Ile) rs782079693 0.00001
NM_001197104.2(KMT2A):c.10549G>A (p.Gly3517Ser) rs2134413643
NM_001197104.2(KMT2A):c.10556C>T (p.Pro3519Leu) rs1053444835
NM_001197104.2(KMT2A):c.1064T>C (p.Ile355Thr)
NM_001197104.2(KMT2A):c.10802A>G (p.Gln3601Arg) rs1591288712
NM_001197104.2(KMT2A):c.1082T>C (p.Ile361Thr)
NM_001197104.2(KMT2A):c.10840G>C (p.Val3614Leu)
NM_001197104.2(KMT2A):c.11072-1G>A
NM_001197104.2(KMT2A):c.11366G>A (p.Arg3789His)
NM_001197104.2(KMT2A):c.11587G>A (p.Gly3863Ser) rs1591311290
NM_001197104.2(KMT2A):c.125C>T (p.Pro42Leu)
NM_001197104.2(KMT2A):c.130C>A (p.Pro44Thr) rs1437526128
NM_001197104.2(KMT2A):c.133C>T (p.Pro45Ser) rs1949186581
NM_001197104.2(KMT2A):c.1433G>A (p.Arg478Gln) rs782711809
NM_001197104.2(KMT2A):c.1512C>A (p.Ser504Arg) rs1555036041
NM_001197104.2(KMT2A):c.1610G>C (p.Ser537Thr)
NM_001197104.2(KMT2A):c.167C>A (p.Ser56Tyr) rs1949187908
NM_001197104.2(KMT2A):c.188CGG[7] (p.Ala66_Ala67dup) rs781936420
NM_001197104.2(KMT2A):c.1A>T (p.Met1Leu)
NM_001197104.2(KMT2A):c.2070G>A (p.Met690Ile)
NM_001197104.2(KMT2A):c.209G>A (p.Ser70Asn) rs1177309170
NM_001197104.2(KMT2A):c.2143G>A (p.Val715Ile) rs1949975510
NM_001197104.2(KMT2A):c.226G>T (p.Gly76Trp) rs1949190966
NM_001197104.2(KMT2A):c.2326G>C (p.Val776Leu)
NM_001197104.2(KMT2A):c.2618G>A (p.Ser873Asn) rs1057519618
NM_001197104.2(KMT2A):c.2797C>T (p.Arg933Trp) rs782407414
NM_001197104.2(KMT2A):c.2986T>C (p.Ser996Pro) rs1949992868
NM_001197104.2(KMT2A):c.3094G>T (p.Ala1032Ser) rs1949994505
NM_001197104.2(KMT2A):c.31G>A (p.Ala11Thr)
NM_001197104.2(KMT2A):c.3283G>A (p.Ala1095Thr)
NM_001197104.2(KMT2A):c.3581G>A (p.Cys1194Tyr) rs1950106455
NM_001197104.2(KMT2A):c.3968C>T (p.Thr1323Ile) rs1950142519
NM_001197104.2(KMT2A):c.4361C>T (p.Pro1454Leu)
NM_001197104.2(KMT2A):c.4420T>A (p.Trp1474Arg) rs1950273260
NM_001197104.2(KMT2A):c.4426T>A (p.Cys1476Ser) rs587783677
NM_001197104.2(KMT2A):c.4433G>A (p.Arg1478His) rs1555041629
NM_001197104.2(KMT2A):c.464AAG[1] (p.Glu156del)
NM_001197104.2(KMT2A):c.4915C>A (p.Leu1639Ile)
NM_001197104.2(KMT2A):c.491G>A (p.Arg164Lys) rs1949894030
NM_001197104.2(KMT2A):c.4924G>A (p.Glu1642Lys) rs369646146
NM_001197104.2(KMT2A):c.4969T>G (p.Ser1657Ala) rs1950329805
NM_001197104.2(KMT2A):c.5005-3T>C
NM_001197104.2(KMT2A):c.526C>T (p.Arg176Cys)
NM_001197104.2(KMT2A):c.5582G>T (p.Ser1861Ile) rs1950407707
NM_001197104.2(KMT2A):c.5876T>G (p.Phe1959Cys) rs1950445141
NM_001197104.2(KMT2A):c.5958C>T (p.Gly1986=) rs1555044758
NM_001197104.2(KMT2A):c.5959G>A (p.Glu1987Lys)
NM_001197104.2(KMT2A):c.6142T>G (p.Phe2048Val) rs1950472916
NM_001197104.2(KMT2A):c.6518C>T (p.Pro2173Leu) rs2134384180
NM_001197104.2(KMT2A):c.6709A>G (p.Thr2237Ala) rs1950517622
NM_001197104.2(KMT2A):c.6773G>A (p.Ser2258Asn)
NM_001197104.2(KMT2A):c.7354C>G (p.Pro2452Ala) rs2134391388
NM_001197104.2(KMT2A):c.7444T>C (p.Cys2482Arg)
NM_001197104.2(KMT2A):c.7477A>G (p.Lys2493Glu) rs1950532267
NM_001197104.2(KMT2A):c.905G>A (p.Arg302Gln) rs2134259085
NM_001197104.2(KMT2A):c.9911T>G (p.Leu3304Arg)

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