ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome by MGZ Medical Genetics Center

Included ClinVar conditions (870):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 230
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HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451 0.00001
NM_000214.3(JAG1):c.1223C>T (p.Thr408Met) rs773039210 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_014141.6(CNTNAP2):c.2098+5G>A rs994335919 0.00001
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val) rs1277383877 0.00001
NM_016343.4(CENPF):c.9280C>T (p.Arg3094Ter) rs869312748 0.00001
NM_017780.4(CHD7):c.2900A>T (p.Lys967Ile) rs1345463010 0.00001
NM_024408.4(NOTCH2):c.2440A>G (p.Ile814Val) rs782757612 0.00001
NM_000168.6(GLI3):c.4642C>T (p.Pro1548Ser)
NM_000193.4(SHH):c.1157_1180del (p.Leu386_Ala393del)
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer) rs1555828321
NM_000214.3(JAG1):c.3164T>A (p.Val1055Glu)
NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter) rs951710742
NM_000346.4(SOX9):c.816_817insTCCGTGAC (p.Val273fs)
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) rs121909196
NM_000503.6(EYA1):c.520C>T (p.Gln174Ter)
NM_000503.6(EYA1):c.637C>T (p.Gln213Ter) rs2129000663
NM_000540.3(RYR1):c.7871G>C (p.Arg2624Pro)
NM_000612.6(IGF2):c.-6-2A>T
NM_001042424.3(NSD2):c.927G>T (p.Lys309Asn)
NM_001079520.2(DACT1):c.2122G>A (p.Glu708Lys)
NM_001079872.2(CUL4B):c.1423del (p.Gln475fs)
NM_001079872.2(CUL4B):c.986T>C (p.Ile329Thr)
NM_001080517.3(SETD5):c.1441_1442insCTTG (p.Glu481delinsAlaTer)
NM_001080517.3(SETD5):c.2003C>G (p.Ser668Ter)
NM_001080517.3(SETD5):c.2327C>T (p.Thr776Ile)
NM_001080517.3(SETD5):c.2383C>T (p.Gln795Ter)
NM_001080517.3(SETD5):c.667A>C (p.Asn223His)
NM_001081550.2(THOC2):c.2983T>C (p.Tyr995His)
NM_001083962.2(TCF4):c.1351-1G>C
NM_001083962.2(TCF4):c.1849G>T (p.Val617Phe) rs1568303086
NM_001134673.4(NFIA):c.467G>C (p.Cys156Ser)
NM_001145358.2(SIN3A):c.1430C>T (p.Ala477Val)
NM_001145358.2(SIN3A):c.172_173del (p.Val58fs)
NM_001145358.2(SIN3A):c.2915G>T (p.Gly972Val)
NM_001163435.3(TBCK):c.134T>G (p.Leu45Arg)
NM_001197104.2(KMT2A):c.11366G>A (p.Arg3789His)
NM_001197104.2(KMT2A):c.2070G>A (p.Met690Ile)
NM_001197104.2(KMT2A):c.6320-1G>A
NM_001197104.2(KMT2A):c.7144C>T (p.Arg2382Ter) rs387907275
NM_001197104.2(KMT2A):c.7444T>C (p.Cys2482Arg)
NM_001197104.2(KMT2A):c.7941_7942del (p.Ile2648fs)
NM_001270.4(CHD1):c.2042A>G (p.Tyr681Cys)
NM_001271938.2(MEGF8):c.7783C>T (p.Arg2595Trp)
NM_001282531.3(ADNP):c.2292T>G (p.Tyr764Ter)
NM_001282531.3(ADNP):c.2330_2333del (p.Lys777fs)
NM_001291415.2(KDM6A):c.409G>T (p.Gly137Cys)
NM_001330311.2(DVL1):c.363-1G>C
NM_001347721.2(DYRK1A):c.1114_1133del (p.Pro372fs)
NM_001347721.2(DYRK1A):c.1224dup (p.Pro409fs)
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln) rs797045041
NM_001347721.2(DYRK1A):c.285C>A (p.Tyr95Ter) rs797044519
NM_001347721.2(DYRK1A):c.701dup (p.Tyr234Ter)
NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)
NM_001365902.3(NFIX):c.698-2A>G
NM_001374828.1(ARID1B):c.2714del (p.Asn905fs)
NM_001374828.1(ARID1B):c.5047C>T (p.Gln1683Ter)
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs) rs1583513256
NM_001374828.1(ARID1B):c.7046C>T (p.Ser2349Leu)
NM_001375380.1(EBF3):c.554G>C (p.Arg185Thr)
NM_001375380.1(EBF3):c.947dup (p.Pro317fs)
NM_001377229.1(DISP1):c.895C>T (p.Arg299Ter)
NM_001378183.1(PIEZO2):c.8173A>G (p.Met2725Val)
NM_001379200.1(TBX1):c.473G>A (p.Gly158Asp)
NM_001394372.1(BICRA):c.1614C>A (p.Ser538Arg)
NM_001394372.1(BICRA):c.2434C>T (p.Arg812Cys)
NM_001429.4(EP300):c.3746A>G (p.Glu1249Gly)
NM_001429.4(EP300):c.5519T>G (p.Val1840Gly)
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His) rs1555666392
NM_001614.5(ACTG1):c.124G>A (p.Gly42Ser)
NM_001614.5(ACTG1):c.166G>A (p.Asp56Asn)
NM_001904.4(CTNNB1):c.1185+1dup
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002834.5(PTPN11):c.1495T>C (p.Ser499Pro)
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln) rs121918464
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys) rs1279770165
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) rs397516810
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_003036.4(SKI):c.103C>G (p.Pro35Ala)
NM_003036.4(SKI):c.1415C>T (p.Ala472Val)
NM_003036.4(SKI):c.182C>T (p.Pro61Leu) rs1557806444
NM_003036.4(SKI):c.237C>G (p.Ile79Met)
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp) rs1568963596
NM_003073.5(SMARCB1):c.84C>G (p.Ile28Met)
NM_003076.5(SMARCD1):c.142C>G (p.Leu48Val)
NM_003106.4(SOX2):c.241del (p.Leu81fs)
NM_003106.4(SOX2):c.70_89del (p.Asn24fs) rs398123693
NM_003482.4(KMT2D):c.10357C>G (p.Gln3453Glu)
NM_003482.4(KMT2D):c.10993C>T (p.Pro3665Ser)
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.4(KMT2D):c.12992C>A (p.Pro4331His)
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.4(KMT2D):c.177-1G>A
NM_003482.4(KMT2D):c.5857C>G (p.Leu1953Val)
NM_003620.4(PPM1D):c.1384C>T (p.Gln462Ter)
NM_003737.4(DCHS1):c.2500C>T (p.Arg834Ter)
NM_003737.4(DCHS1):c.4463T>C (p.Leu1488Pro)
NM_003801.4(GPAA1):c.1621C>T (p.Arg541Trp)
NM_003801.4(GPAA1):c.367-1G>A
NM_004187.5(KDM5C):c.1447del (p.Glu483fs)
NM_004187.5(KDM5C):c.2474G>A (p.Cys825Tyr)
NM_004187.5(KDM5C):c.3208C>T (p.Gln1070Ter)
NM_004247.4(EFTUD2):c.2562-2_2562-1del rs2050474390
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.940T>A (p.Ser314Thr)
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg) rs2051906390
NM_004456.5(EZH2):c.1876G>A (p.Val626Met) rs587783625
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005360.5(MAF):c.984C>G (p.Asp328Glu)
NM_005629.4(SLC6A8):c.429C>A (p.Tyr143Ter)
NM_005857.5(ZMPSTE24):c.533T>A (p.Leu178Ter)
NM_005862.3(STAG1):c.1716dup (p.Ile573fs)
NM_005862.3(STAG1):c.3691C>T (p.Arg1231Ter)
NM_005982.4(SIX1):c.397_399del (p.Glu133del) rs80356460
NM_005996.4(TBX3):c.961dup (p.Ser321fs)
NM_006015.6(ARID1A):c.1522C>T (p.Pro508Ser)
NM_006015.6(ARID1A):c.3217T>C (p.Trp1073Arg)
NM_006015.6(ARID1A):c.3898_3899del (p.Met1300fs)
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006306.4(SMC1A):c.2555T>C (p.Leu852Pro)
NM_006766.5(KAT6A):c.1039_1040del (p.Thr347fs)
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter) rs886042000
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006939.4(SOS2):c.1648C>G (p.Arg550Gly) rs1344304906
NM_006941.4(SOX10):c.274G>A (p.Val92Met)
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007118.4(TRIO):c.757dup (p.Ala253fs)
NM_007373.4(SHOC2):c.517A>G (p.Met173Val) rs1057518206
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter) rs1553444644
NM_013275.6(ANKRD11):c.1063C>T (p.Gln355Ter)
NM_013275.6(ANKRD11):c.1119del (p.Glu374fs)
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2063dup (p.His689fs)
NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs) rs772267579
NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter) rs1364690005
NM_013275.6(ANKRD11):c.4373AGA[3] (p.Lys1461del)
NM_013275.6(ANKRD11):c.4634del (p.Pro1545fs)
NM_013275.6(ANKRD11):c.6101del (p.Leu2034fs)
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.7569G>A (p.Arg2523=)
NM_014141.6(CNTNAP2):c.542G>T (p.Cys181Phe)
NM_014233.4(UBTF):c.2040TGA[1] (p.Asp681del)
NM_014795.4(ZEB2):c.2866C>T (p.Gln956Ter)
NM_014991.6(WDFY3):c.2785C>T (p.Arg929Ter)
NM_015100.4(POGZ):c.1064A>T (p.Glu355Val)
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter) rs773311942
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015103.3(PLXND1):c.2467C>A (p.Pro823Thr)
NM_015335.5(MED13L):c.3034del (p.Tyr1012fs)
NM_015335.5(MED13L):c.3627_3630del (p.Pro1210fs)
NM_015335.5(MED13L):c.799G>A (p.Val267Met)
NM_015338.6(ASXL1):c.3565G>A (p.Ala1189Thr)
NM_015570.4(AUTS2):c.641G>T (p.Ser214Ile)
NM_016343.4(CENPF):c.1068G>A (p.Lys356=)
NM_016628.5(WAC):c.272del (p.Gly91fs)
NM_016628.5(WAC):c.469T>C (p.Trp157Arg)
NM_017780.4(CHD7):c.2377G>T (p.Glu793Ter)
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter) rs1563625351
NM_017780.4(CHD7):c.4409G>A (p.Gly1470Asp)
NM_017780.4(CHD7):c.5935T>C (p.Ser1979Pro)
NM_017780.4(CHD7):c.6236del (p.Lys2079fs)
NM_017780.4(CHD7):c.7604G>A (p.Ser2535Asn)
NM_017780.4(CHD7):c.8182G>A (p.Ala2728Thr)
NM_017934.7(PHIP):c.2161C>T (p.Arg721Ter)
NM_017934.7(PHIP):c.4370+1G>A
NM_017934.7(PHIP):c.4528C>T (p.Arg1510Ter)
NM_017934.7(PHIP):c.919_923del (p.Ile307fs) rs771126523
NM_019066.5(MAGEL2):c.1766C>A (p.Ala589Asp)
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_021224.6(ZNF462):c.3292_3293insGGCCCCCCCCCCCCCCCCC (p.Ser1098fs)
NM_021224.6(ZNF462):c.4825dup (p.Ser1609fs)
NM_022455.5(NSD1):c.1207A>T (p.Lys403Ter)
NM_022455.5(NSD1):c.1744T>G (p.Phe582Val)
NM_022455.5(NSD1):c.3440A>G (p.Glu1147Gly)
NM_022455.5(NSD1):c.4205G>A (p.Ser1402Asn)
NM_022455.5(NSD1):c.4302+3A>T
NM_022455.5(NSD1):c.4365del (p.Asp1456fs)
NM_022455.5(NSD1):c.4642-2A>G
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_022552.5(DNMT3A):c.1550G>A (p.Cys517Tyr)
NM_022552.5(DNMT3A):c.2311C>G (p.Arg771Gly)
NM_024408.4(NOTCH2):c.3301C>T (p.Pro1101Ser)
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024757.5(EHMT1):c.1180del (p.Glu394fs)
NM_024757.5(EHMT1):c.1919_1923dup (p.Ile642Ter)
NM_024757.5(EHMT1):c.294_297del (p.Arg99fs)
NM_025074.7(FRAS1):c.1682G>A (p.Cys561Tyr)
NM_030632.3(ASXL3):c.1059C>A (p.Phe353Leu)
NM_030632.3(ASXL3):c.1853C>T (p.Pro618Leu)
NM_030632.3(ASXL3):c.2801T>G (p.Leu934Ter) rs2067636699
NM_030632.3(ASXL3):c.3275dup (p.Gly1094fs)
NM_030632.3(ASXL3):c.4211_4212del (p.Thr1404fs) rs1555744175
NM_030665.4(RAI1):c.1785dup (p.Arg596fs)
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_078480.3(PUF60):c.642del (p.Ile214_Ile215insTer)
NM_133433.4(NIPBL):c.1469G>A (p.Arg490His)
NM_133433.4(NIPBL):c.272_280del (p.Asp91_Pro93del)
NM_133433.4(NIPBL):c.3480TCC[2] (p.Pro1163del)
NM_138927.4(SON):c.4480C>T (p.Gln1494Ter)
NM_170606.3(KMT2C):c.12666+1G>A
NM_170606.3(KMT2C):c.12837G>C (p.Gln4279His)
NM_170606.3(KMT2C):c.14376G>C (p.Glu4792Asp)
NM_170606.3(KMT2C):c.2829_2832dup (p.Val945fs)
NM_170606.3(KMT2C):c.52C>T (p.Pro18Ser)
NM_174916.3(UBR1):c.2379+1G>C
NM_176787.5(PIGN):c.310G>A (p.Gly104Arg)
NM_178012.5(TUBB2B):c.1091C>T (p.Ser364Leu)
NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg) rs797046075
NM_181486.4(TBX5):c.394C>A (p.Pro132Thr)

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