ClinVar Miner

List of variants reported as likely pathogenic for multiple congenital anomalies/dysmorphic syndrome by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_007059.4(KPTN):c.863G>A (p.Arg288Gln) rs772378754 0.00002
NM_004187.5(KDM5C):c.322C>T (p.Arg108Trp) rs146232504 0.00001
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His) rs1023010218 0.00001
NM_015338.6(ASXL1):c.1015C>T (p.Gln339Ter) rs2011567269 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000214.3(JAG1):c.235C>T (p.Leu79Phe)
NM_001031689.3(PLAA):c.1570C>T (p.Arg524Ter)
NM_001079872.2(CUL4B):c.181_182del (p.Thr61fs)
NM_001270.4(CHD1):c.1978A>G (p.Ile660Val)
NM_001271938.2(MEGF8):c.3931G>T (p.Glu1311Ter)
NM_001291303.3(FAT4):c.6982G>T (p.Glu2328Ter)
NM_001291415.2(KDM6A):c.565-401A>G
NM_001330288.2(SMARCC2):c.805C>T (p.Arg269Ter) rs2135734683
NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu) rs1591107040
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001371623.1(TCOF1):c.1916del (p.Pro639fs) rs2150732608
NM_001374828.1(ARID1B):c.2742_2750delinsAC (p.Met914fs)
NM_001379403.1(WDR26):c.1082A>G (p.His361Arg)
NM_001797.4(CDH11):c.778G>C (p.Asp260His)
NM_001904.4(CTNNB1):c.1690dup (p.Val564fs)
NM_002397.5(MEF2C):c.134T>C (p.Leu45Pro)
NM_002834.5(PTPN11):c.1187A>G (p.Tyr396Cys)
NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu) rs397507536
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_003106.4(SOX2):c.758del (p.Pro253fs)
NM_003221.4(TFAP2B):c.707G>A (p.Arg236His) rs1325125531
NM_003588.4(CUL4B):c.2493G>A (p.Thr831=) rs2147321510
NM_003620.4(PPM1D):c.1412del (p.Pro471fs) rs780195897
NM_003620.4(PPM1D):c.1606del (p.Arg536fs) rs2031564242
NM_003801.4(GPAA1):c.43del (p.Arg15fs) rs2129936761
NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter) rs2151354104
NM_004380.3(CREBBP):c.5961_5981delinsGCAT (p.Met1988fs) rs2151306905
NM_004985.5(KRAS):c.229G>T (p.Gly77Cys) rs2141509652
NM_005359.6(SMAD4):c.50_51del (p.Leu17fs)
NM_005359.6(SMAD4):c.875del (p.Pro292fs)
NM_005445.4(SMC3):c.1343dup (p.Glu449fs) rs2134735614
NM_005629.4(SLC6A8):c.1317_1321del (p.Arg440fs)
NM_006245.4(PPP2R5D):c.649T>C (p.Phe217Leu)
NM_006268.5(DPF2):c.1099+2dup rs2137711145
NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser) rs1556885810
NM_006565.4(CTCF):c.721_722del (p.Asn241fs)
NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter) rs2150855722
NM_006908.5(RAC1):c.129T>A (p.Asn43Lys)
NM_007059.4(KPTN):c.863G>C (p.Arg288Pro)
NM_007118.4(TRIO):c.4495del (p.Thr1499fs) rs2152373759
NM_007118.4(TRIO):c.4649dup (p.Asp1551fs)
NM_013275.6(ANKRD11):c.1009C>T (p.Gln337Ter) rs2151766442
NM_013275.6(ANKRD11):c.3597_3598del (p.Lys1200fs)
NM_013275.6(ANKRD11):c.5686_5697delinsACCAGCA (p.Ala1896fs)
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp) rs2033536147
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys) rs2147938135
NM_014233.4(UBTF):c.1426G>A (p.Glu476Lys)
NM_014780.5(CUL7):c.3368_3369del (p.Arg1123fs)
NM_014991.6(WDFY3):c.9496C>T (p.Arg3166Ter) rs866536893
NM_015311.3(OBSL1):c.2222C>G (p.Ser741Ter)
NM_015570.4(AUTS2):c.2005-1G>C
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs) rs748735420
NM_016030.6(TRAPPC12):c.1164+1G>T
NM_016628.5(WAC):c.67C>T (p.Gln23Ter) rs1836464000
NM_017780.4(CHD7):c.3269_3272del (p.Asp1090fs)
NM_017780.4(CHD7):c.3478del (p.Thr1160fs)
NM_019066.5(MAGEL2):c.2319del (p.Ala772_Trp773insTer)
NM_020699.4(GATAD2B):c.676C>T (p.Pro226Ser)
NM_024757.5(EHMT1):c.3239T>C (p.Met1080Thr)
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys) rs886041093
NM_024757.5(EHMT1):c.3610del (p.Glu1204fs)
NM_030632.3(ASXL3):c.1552_1555del (p.Val517_Lys518insTer)
NM_030632.3(ASXL3):c.1609_1612del (p.Leu537fs)
NM_030665.4(RAI1):c.3997G>A (p.Val1333Met)
NM_032444.4(SLX4):c.838G>T (p.Gly280Ter)
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn) rs2145836461
NM_170606.3(KMT2C):c.4629delinsCC (p.Thr1545fs) rs2129128809
NM_178012.5(TUBB2B):c.518C>G (p.Pro173Arg) rs2113819240

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