ClinVar Miner

List of variants studied for developmental defect during embryogenesis by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850 0.00158
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001365276.2(TNXB):c.211G>T (p.Val71Leu) rs201922477 0.00031
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_003937.3(KYNU):c.563G>A (p.Arg188Gln) rs2304705 0.00023
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met) rs137880855 0.00014
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile) rs376655102 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_001365276.2(TNXB):c.3814G>A (p.Val1272Met) rs749925578 0.00006
NM_006907.4(PYCR1):c.751C>T (p.Arg251Cys) rs756363870 0.00004
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475 0.00003
NM_000393.5(COL5A2):c.1181C>T (p.Ala394Val) rs370121305 0.00003
NM_001734.5(C1S):c.347A>G (p.Asn116Ser) rs782390414 0.00003
NM_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430 0.00002
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr) rs749697867 0.00002
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys) rs758475317 0.00002
NM_000089.4(COL1A2):c.2140C>T (p.Arg714Cys) rs770271259 0.00001
NM_000478.6(ALPL):c.212G>A (p.Arg71His) rs121918003 0.00001
NM_001042492.3(NF1):c.1921A>G (p.Ser641Gly) rs769154907 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_003482.4(KMT2D):c.3455C>T (p.Pro1152Leu) rs765863571 0.00001
NM_020964.3(EPG5):c.4988C>T (p.Pro1663Leu) rs375606930 0.00001
NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter) rs1402362655 0.00001
NM_032634.4(PIGO):c.95G>A (p.Arg32His) rs550039576 0.00001
NM_000027.4(AGA):c.722C>A (p.Pro241His)
NM_000089.4(COL1A2):c.341A>G (p.Gln114Arg) rs2115875606
NM_000090.4(COL3A1):c.4023C>T (p.Gly1341=)
NM_000093.5(COL5A1):c.1781G>A (p.Arg594Gln)
NM_000093.5(COL5A1):c.4176+1G>T
NM_000169.3(GLA):c.901C>T (p.Arg301Ter) rs398123224
NM_000264.5(PTCH1):c.2816C>G (p.Ala939Gly)
NM_000302.4(PLOD1):c.704C>T (p.Thr235Ile)
NM_000393.5(COL5A2):c.3230del (p.Gly1077fs)
NM_000393.5(COL5A2):c.659C>G (p.Pro220Arg)
NM_000478.6(ALPL):c.877_882del (p.Gly293_Asp294del)
NM_000516.7(GNAS):c.967G>C (p.Asp323His)
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter) rs786203570
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro) rs199474792
NM_001080449.3(DNA2):c.1462G>A (p.Val488Ile)
NM_001080449.3(DNA2):c.662C>G (p.Ala221Gly) rs751031650
NM_001080517.3(SETD5):c.2635G>A (p.Glu879Lys)
NM_001081550.2(THOC2):c.4643A>C (p.Glu1548Ala)
NM_001083962.2(TCF4):c.1486G>A (p.Gly496Ser) rs1599570613
NM_001083962.2(TCF4):c.1813C>T (p.Gln605Ter) rs1555710223
NM_001110556.2(FLNA):c.3637G>A (p.Gly1213Ser)
NM_001193315.2(VIPAS39):c.1048-1G>T
NM_001365276.2(TNXB):c.11983A>G (p.Thr3995Ala)
NM_001365276.2(TNXB):c.12376G>A (p.Asp4126Asn)
NM_001365276.2(TNXB):c.2590C>T (p.Gln864Ter) rs748223125
NM_001365276.2(TNXB):c.4958G>A (p.Arg1653Gln) rs772454700
NM_001365276.2(TNXB):c.6493G>A (p.Gly2165Ser)
NM_001365276.2(TNXB):c.9226C>T (p.Leu3076Phe)
NM_001374353.1(GLI2):c.4495A>G (p.Met1499Val)
NM_001374828.1(ARID1B):c.4662G>T (p.Arg1554Ser)
NM_001374828.1(ARID1B):c.6773dup (p.Leu2258fs)
NM_001378183.1(PIEZO2):c.3450+2T>G
NM_001734.5(C1S):c.1015T>G (p.Ser339Ala)
NM_001734.5(C1S):c.2T>C (p.Met1Thr)
NM_001734.5(C1S):c.727G>A (p.Gly243Arg)
NM_002397.5(MEF2C):c.216C>G (p.Tyr72Ter)
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002860.4(ALDH18A1):c.71C>T (p.Thr24Ile)
NM_003107.3(SOX4):c.373_378del (p.Asp125_Tyr126del)
NM_003482.4(KMT2D):c.4853T>C (p.Leu1618Pro)
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003722.5(TP63):c.799G>A (p.Val267Ile) rs768752805
NM_004423.4(DVL3):c.292del (p.Glu98fs)
NM_004991.4(MECOM):c.3065C>T (p.Ala1022Val)
NM_004991.4(MECOM):c.405C>A (p.Phe135Leu)
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005633.4(SOS1):c.800T>C (p.Val267Ala)
NM_006939.4(SOS2):c.949G>A (p.Ala317Thr) rs2139702095
NM_013275.6(ANKRD11):c.5358C>G (p.Asn1786Lys)
NM_015335.5(MED13L):c.5737A>T (p.Ser1913Cys)
NM_015443.4(KANSL1):c.3169C>G (p.Gln1057Glu)
NM_015570.4(AUTS2):c.895T>C (p.Cys299Arg)
NM_017617.5(NOTCH1):c.6776G>T (p.Gly2259Val)
NM_018486.3(HDAC8):c.75_82dup (p.Cys28fs)
NM_020699.4(GATAD2B):c.155del (p.Lys52fs)
NM_023110.3(FGFR1):c.369CTC[1] (p.Ser125del) rs1328266877
NM_024408.4(NOTCH2):c.4747T>C (p.Ser1583Pro)
NM_024757.5(EHMT1):c.1359C>G (p.Ser453Arg) rs545055517
NM_030665.4(RAI1):c.2468G>A (p.Gly823Asp)
NM_133433.4(NIPBL):c.314A>G (p.Asn105Ser)
NM_133433.4(NIPBL):c.4508A>G (p.His1503Arg)
NM_170606.3(KMT2C):c.1361T>A (p.Leu454Gln)
NM_170606.3(KMT2C):c.7067C>G (p.Pro2356Arg)
NM_170606.3(KMT2C):c.9262+1G>A
NM_178012.5(TUBB2B):c.22C>T (p.Gln8Ter)

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.