ClinVar Miner

List of variants reported as likely pathogenic for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Revvity Omics, Revvity

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_001286577.2(C2CD3):c.3911-2A>T rs149366137 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp) rs777425801 0.00009
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_007059.4(KPTN):c.394+1G>A rs373139784 0.00006
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG rs781905246 0.00004
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg) rs778210210 0.00002
NM_001365999.1(SZT2):c.2363C>G (p.Ser788Ter) rs769366055 0.00002
NM_003801.4(GPAA1):c.643C>T (p.Arg215Ter) rs782498857 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_001286577.2(C2CD3):c.1962+2T>A rs1565303622 0.00001
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys) rs181969865 0.00001
NM_015107.3(PHF8):c.1731-2A>G rs1437750762 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_016111.4(TELO2):c.682+1G>A rs779227414 0.00001
NM_133368.3(RSPRY1):c.109del (p.Ala37fs) rs763629092 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter) rs1171657935 0.00001
NM_001080517.3(SETD5):c.2104-1G>T rs2125288295
NM_001080517.3(SETD5):c.2644C>T (p.Arg882Ter) rs1553635637
NM_001080517.3(SETD5):c.891delinsAAG (p.Ile298fs) rs2125187739
NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter) rs2141424841
NM_001163435.3(TBCK):c.1259T>A (p.Leu420Ter) rs2150010400
NM_001197104.2(KMT2A):c.3070dup (p.Ala1024fs)
NM_001197104.2(KMT2A):c.5901del (p.Cys1967fs) rs2134367400
NM_001197104.2(KMT2A):c.6079+2T>C
NM_001197104.2(KMT2A):c.9275_9276del (p.Tyr3092fs) rs2134404192
NM_001286577.2(C2CD3):c.994dup (p.Val332fs) rs750700691
NM_001291415.2(KDM6A):c.2067dup (p.Asn690Ter)
NM_001291415.2(KDM6A):c.3793C>T (p.Arg1265Ter) rs2148193855
NM_001330078.2(NRXN1):c.3364+1G>T
NM_001330078.2(NRXN1):c.3625del (p.Asp1209fs) rs2152697284
NM_001330078.2(NRXN1):c.3835C>T (p.Gln1279Ter) rs2152627014
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001365999.1(SZT2):c.1513C>T (p.Gln505Ter)
NM_001367561.1(DOCK7):c.1005_1011del (p.Pro336fs)
NM_001371986.1(UNC80):c.4582-2A>G rs2124930786
NM_001371986.1(UNC80):c.7222del (p.Ser2408fs)
NM_001371986.1(UNC80):c.9708+1G>A
NM_001374828.1(ARID1B):c.3664dup (p.Asp1222fs) rs2128317569
NM_001374828.1(ARID1B):c.4557C>A (p.Tyr1519Ter)
NM_001374828.1(ARID1B):c.612_613insGCAGCAG (p.Gln205fs)
NM_003072.5(SMARCA4):c.2506-2A>G
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter) rs780122780
NM_003620.4(PPM1D):c.1224dup (p.Met409fs)
NM_003620.4(PPM1D):c.1244dup (p.Thr416fs) rs2143719857
NM_003922.4(HERC1):c.8680+1G>T
NM_004204.5(PIGQ):c.241del (p.Leu81fs) rs2151044300
NM_004247.4(EFTUD2):c.1286-2A>G rs2145474253
NM_004247.4(EFTUD2):c.1542C>A (p.Tyr514Ter) rs749855263
NM_004247.4(EFTUD2):c.1946C>G (p.Ser649Ter) rs2145455322
NM_004278.4(PIGL):c.494+1G>A rs2142864883
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
NM_005862.3(STAG1):c.513del (p.Gln170_Trp171insTer) rs2107905668
NM_005993.5(TBCD):c.2983del (p.Glu995fs)
NM_006565.4(CTCF):c.782-1G>A
NM_006766.5(KAT6A):c.5161_5165del (p.Pro1721fs)
NM_013275.6(ANKRD11):c.1708_1711del (p.Thr571fs) rs2151763094
NM_013275.6(ANKRD11):c.1861A>T (p.Lys621Ter) rs2151762320
NM_013275.6(ANKRD11):c.4306_4307del (p.Glu1436fs)
NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter) rs2151745705
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7225G>T (p.Glu2409Ter)
NM_013275.6(ANKRD11):c.7234C>T (p.Gln2412Ter) rs886042019
NM_013275.6(ANKRD11):c.7407C>G (p.Tyr2469Ter) rs370673579
NM_014795.4(ZEB2):c.2865C>G (p.Tyr955Ter) rs2149876315
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
NM_014795.4(ZEB2):c.639C>A (p.Cys213Ter) rs1451961075
NM_015100.4(POGZ):c.2324_2325insTT (p.Arg777fs) rs2102164714
NM_015443.4(KANSL1):c.295C>T (p.Gln99Ter) rs2147749507
NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter) rs779686052
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_016023.5(OTUD6B):c.481A>T (p.Lys161Ter) rs767217536
NM_016628.5(WAC):c.1350T>G (p.Tyr450Ter) rs753403940
NM_016628.5(WAC):c.275-1G>A rs2132628986
NM_017934.7(PHIP):c.2039_2040del (p.Glu680fs)
NM_017934.7(PHIP):c.2564G>A (p.Trp855Ter) rs2127718655
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) rs761820222
NM_020771.4(HACE1):c.1443C>A (p.Cys481Ter) rs2114793034
NM_024339.5(THOC6):c.44_45del (p.Glu15fs) rs754379725
NM_024339.5(THOC6):c.810+1G>A rs2072821846
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs) rs1599563995
NM_030632.3(ASXL3):c.2160dup (p.Asp721Ter) rs2145414972
NM_030632.3(ASXL3):c.36G>A (p.Trp12Ter)
NM_030632.3(ASXL3):c.4409del (p.Pro1470fs)
NM_031307.4(PUS3):c.17_18del (p.Thr6fs) rs1208593429
NM_078480.3(PUF60):c.24+1G>T rs1064795388
NM_078480.3(PUF60):c.472del (p.Ile158fs) rs2130256693
NM_078480.3(PUF60):c.713C>G (p.Ser238Ter) rs1554643099
NM_080632.3(UPF3B):c.1060C>T (p.Arg354Ter) rs2056119926
NM_080632.3(UPF3B):c.982G>T (p.Glu328Ter) rs376175156
NM_133433.4(NIPBL):c.1808del (p.Lys603fs) rs727503767
NM_133433.4(NIPBL):c.6344-1G>A
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_138927.4(SON):c.2977_2980delinsAATTTTATTCA (p.Leu993fs) rs2145826423
NM_138927.4(SON):c.2981del (p.Ala994fs)
NM_138927.4(SON):c.944_975delinsGTCTCTG (p.Glu315fs) rs2145816784
NM_152515.5(CKAP2L):c.501del (p.Asn167fs) rs2104884982
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter) rs1847921335
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs) rs1371736348
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) rs773094891
NM_152564.5(VPS13B):c.1482del (p.Thr495fs) rs2132556658
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter) rs1554645551
NM_152564.5(VPS13B):c.292-2A>G rs386834079
NM_152564.5(VPS13B):c.4819C>T (p.Gln1607Ter) rs1588491546
NM_152564.5(VPS13B):c.4950-2A>G
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs) rs2130858031
NM_152564.5(VPS13B):c.9701del (p.Asn3234fs) rs2130865566
NM_153816.6(SNX14):c.44_45del (p.Arg15fs)
NM_170606.3(KMT2C):c.2483del (p.Pro828fs)
NM_170606.3(KMT2C):c.3599C>G (p.Ser1200Ter) rs2129145649
NM_176787.5(PIGN):c.407G>A (p.Trp136Ter) rs1215392490
NM_176787.5(PIGN):c.674+1G>A rs1555694770
NM_194318.4(B3GLCT):c.1140C>A (p.Tyr380Ter) rs199908878

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