ClinVar Miner

List of variants studied 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: 151
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_007059.4(KPTN):c.776C>A (p.Ser259Ter) rs374298314 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
NM_014008.5(CCDC22):c.1212+4G>T rs782736581 0.00004
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter) rs765769406 0.00002
NM_007059.4(KPTN):c.863G>A (p.Arg288Gln) rs772378754 0.00002
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs) rs730881619 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
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_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs) rs886038189
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000168.6(GLI3):c.3386_3387del (p.Asp1128_Phe1129insTer) rs116840767
NM_000214.3(JAG1):c.235C>T (p.Leu79Phe)
NM_000503.6(EYA1):c.1698+1G>T rs530147851
NM_001031689.3(PLAA):c.1570C>T (p.Arg524Ter)
NM_001079872.2(CUL4B):c.181_182del (p.Thr61fs)
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys) rs2145503179
NM_001083962.2(TCF4):c.1706G>A (p.Arg569Gln)
NM_001101.5(ACTB):c.439C>T (p.Arg147Cys) rs2128241302
NM_001197104.2(KMT2A):c.1274del (p.Pro425fs) rs2134260983
NM_001197104.2(KMT2A):c.5455C>T (p.Gln1819Ter) rs2134355176
NM_001197104.2(KMT2A):c.6487C>T (p.Arg2163Ter) rs1555045816
NM_001197104.2(KMT2A):c.9326_9330del (p.Ser3109fs)
NM_001270.4(CHD1):c.1978A>G (p.Ile660Val)
NM_001271938.2(MEGF8):c.3931G>T (p.Glu1311Ter)
NM_001282531.3(ADNP):c.2454C>G (p.Tyr818Ter) rs2122743080
NM_001291303.3(FAT4):c.6982G>T (p.Glu2328Ter)
NM_001291415.2(KDM6A):c.2276del (p.Gly759fs)
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_001360.3(DHCR7):c.964-1G>C rs138659167
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_001374828.1(ARID1B):c.4215del (p.Phe1405fs) rs2128339990
NM_001374828.1(ARID1B):c.4968_4969del (p.Arg1657fs)
NM_001374828.1(ARID1B):c.5867_5872delinsC (p.His1956fs)
NM_001374828.1(ARID1B):c.5963_5964del (p.Asp1987_Ser1988insTer)
NM_001374828.1(ARID1B):c.6924del (p.Leu2310fs)
NM_001379403.1(WDR26):c.1082A>G (p.His361Arg)
NM_001394372.1(BICRA):c.1214_1215insT (p.Gln407fs)
NM_001791.4(CDC42):c.196A>G (p.Arg66Gly) rs797044870
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_002397.5(MEF2C):c.210delinsTAC (p.Glu71fs)
NM_002397.5(MEF2C):c.241A>G (p.Asn81Asp)
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
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_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_003106.4(SOX2):c.70_89del (p.Asn24fs) rs398123693
NM_003106.4(SOX2):c.758del (p.Pro253fs)
NM_003108.4(SOX11):c.1178C>A (p.Ser393Ter)
NM_003221.4(TFAP2B):c.707G>A (p.Arg236His) rs1325125531
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003482.4(KMT2D):c.50-2A>G
NM_003482.4(KMT2D):c.8311C>T (p.Arg2771Ter) rs1251778848
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.3524A>G (p.Tyr1175Cys) rs28937315
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_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
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_005633.4(SOS1):c.1867T>A (p.Phe623Ile) rs727505093
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_006015.6(ARID1A):c.31_56del (p.Ser11fs) rs797045262
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
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.3898dup (p.Glu1300fs)
NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter) rs2150855722
NM_006908.5(RAC1):c.129T>A (p.Asn43Lys)
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
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_012330.4(KAT6B):c.1009C>T (p.Arg337Ter)
NM_012330.4(KAT6B):c.5646del (p.Asn1883fs)
NM_013275.6(ANKRD11):c.1009C>T (p.Gln337Ter) rs2151766442
NM_013275.6(ANKRD11):c.2692C>T (p.Arg898Ter) rs780011005
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_015100.4(POGZ):c.1053del (p.Ser352fs)
NM_015100.4(POGZ):c.2022dup (p.Lys675Ter)
NM_015311.3(OBSL1):c.2222C>G (p.Ser741Ter)
NM_015443.4(KANSL1):c.1328dup (p.Ala444fs) rs2146947627
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.139C>T (p.Arg47Ter) rs368543869
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_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017780.4(CHD7):c.8546del (p.Glu2849fs) rs2129765592
NM_019066.5(MAGEL2):c.2319del (p.Ala772_Trp773insTer)
NM_020699.4(GATAD2B):c.466-1G>C
NM_020699.4(GATAD2B):c.676C>T (p.Pro226Ser)
NM_022369.4(STRA6):c.1594C>T (p.Arg532Ter) rs570214336
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs) rs587784086
NM_022455.5(NSD1):c.6566_6567dup (p.Met2190fs)
NM_024665.7(TBL1XR1):c.64dup (p.Ser22fs)
NM_024757.5(EHMT1):c.1792-21_1800del
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.219_226del (p.Ala74fs)
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_133433.4(NIPBL):c.64+1G>A rs587784009
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.4(SON):c.6321+1del
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) rs1057516559
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_170606.3(KMT2C):c.10266_10267del (p.Arg3423fs)
NM_170606.3(KMT2C):c.4629delinsCC (p.Thr1545fs) rs2129128809
NM_178012.5(TUBB2B):c.518C>G (p.Pro173Arg) rs2113819240

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.