ClinVar Miner

List of variants reported as likely pathogenic for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_003193.5(TBCE):c.143_144del (p.Lys48fs) rs758937799 0.00003
NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His) rs200118797 0.00002
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266 0.00001
NM_001083962.2(TCF4):c.1417_1418delinsT (p.Pro473fs)
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001197104.2(KMT2A):c.4429CGT[1] (p.Arg1478del) rs1591393351
NM_001197104.2(KMT2A):c.8233A>T (p.Lys2745Ter)
NM_001282531.3(ADNP):c.2132del (p.Ser711fs)
NM_001282531.3(ADNP):c.2666del (p.Ser889fs)
NM_001282531.3(ADNP):c.2712dup (p.Asn905Ter) rs2122740067
NM_001330288.2(SMARCC2):c.1926+2T>C rs1565903353
NM_001347721.2(DYRK1A):c.1520-1G>C
NM_001347721.2(DYRK1A):c.764A>C (p.Lys255Thr)
NM_001367561.1(DOCK7):c.953_959dup (p.Ala321fs)
NM_001374353.1(GLI2):c.2987_2994dup (p.Asp999fs)
NM_001374353.1(GLI2):c.349_350delinsA (p.Ala117fs)
NM_001374353.1(GLI2):c.349del (p.Ala117fs)
NM_001374353.1(GLI2):c.693_696dup (p.Leu233fs)
NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter) rs1028186690
NM_001614.5(ACTG1):c.629G>A (p.Arg210His) rs1555666709
NM_001791.4(CDC42):c.242G>T (p.Cys81Phe) rs1553196100
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003108.4(SOX11):c.1097del (p.Ser366fs)
NM_003482.4(KMT2D):c.16057del (p.His5353fs)
NM_004187.5(KDM5C):c.1592C>T (p.Pro531Leu)
NM_004187.5(KDM5C):c.974_975del (p.Tyr325fs)
NM_004380.3(CREBBP):c.3836+5G>A
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter) rs587783505
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005359.6(SMAD4):c.1541del (p.Pro514fs)
NM_005413.4(SIX3):c.671G>A (p.Trp224Ter)
NM_005993.5(TBCD):c.1723_1724dup (p.Trp575fs)
NM_006015.6(ARID1A):c.3198+2T>A
NM_006015.6(ARID1A):c.5121_5124del (p.Gln1708fs)
NM_006306.4(SMC1A):c.1915G>A (p.Val639Met)
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_007118.4(TRIO):c.1993C>T (p.Gln665Ter)
NM_007118.4(TRIO):c.3766-2A>C
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_007118.4(TRIO):c.7566_7573dup (p.Arg2525fs)
NM_012330.4(KAT6B):c.3372+2T>A
NM_012330.4(KAT6B):c.4911_4921del (p.Val1638fs) rs199470480
NM_012330.4(KAT6B):c.5426del (p.Pro1809fs)
NM_013275.6(ANKRD11):c.2405_2406del (p.Leu802fs)
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_015100.4(POGZ):c.2914C>T (p.Gln972Ter) rs1557866540
NM_015107.3(PHF8):c.1516C>T (p.Arg506Ter)
NM_015338.6(ASXL1):c.1621dup (p.Arg541fs)
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015634.4(KIFBP):c.616del (p.Val206fs)
NM_016628.5(WAC):c.1837C>T (p.Arg613Ter) rs1085307480
NM_017934.7(PHIP):c.2854C>T (p.Arg952Ter)
NM_017934.7(PHIP):c.602G>T (p.Gly201Val) rs1771389382
NM_018486.3(HDAC8):c.596C>T (p.Ser199Phe)
NM_020699.4(GATAD2B):c.1200dup (p.Val401fs)
NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln) rs757823678
NM_023110.3(FGFR1):c.809G>A (p.Gly270Asp) rs2150822504
NM_024665.7(TBL1XR1):c.853G>A (p.Gly285Arg)
NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter) rs377619533
NM_030632.3(ASXL3):c.355+1G>A
NM_030665.4(RAI1):c.1930del (p.Glu644fs)
NM_030665.4(RAI1):c.2521_2524del (p.Ser841fs)
NM_031263.4(HNRNPK):c.59-1G>C
NM_130466.4(UBE3B):c.1228C>T (p.Gln410Ter)
NM_152564.5(VPS13B):c.8098-1G>C rs1554565484
NM_174916.3(UBR1):c.3513T>G (p.Tyr1171Ter)
NM_176787.5(PIGN):c.601_602insT (p.Glu201fs)
NM_194318.4(B3GLCT):c.206_207del (p.Phe69fs)

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