ClinVar Miner

List of variants reported as uncertain significance for developmental defect during embryogenesis by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_003482.4(KMT2D):c.12229C>T (p.Leu4077Phe) rs774148221 0.00003
NM_013275.6(ANKRD11):c.3298T>C (p.Ser1100Pro) rs746044012 0.00002
NM_003482.4(KMT2D):c.12461G>A (p.Gly4154Asp) rs775284012 0.00001
NM_015335.5(MED13L):c.4576C>A (p.Pro1526Thr) rs752521430 0.00001
NM_000090.4(COL3A1):c.3094G>A (p.Gly1032Ser)
NM_000135.4(FANCA):c.1226-13G>A rs377159744
NM_000181.4(GUSB):c.1423C>A (p.Pro475Thr)
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179
NM_000381.4(MID1):c.535G>A (p.Glu179Lys) rs2147468779
NM_001083962.2(TCF4):c.1105G>A (p.Ala369Thr)
NM_001270.4(CHD1):c.4886C>G (p.Ser1629Cys)
NM_001384732.1(CPLANE1):c.6462G>A (p.Gln2154=)
NM_001394372.1(BICRA):c.2428G>A (p.Val810Met)
NM_002397.5(MEF2C):c.119A>G (p.Asp40Gly) rs2153074606
NM_002487.3(NDN):c.871C>A (p.Pro291Thr) rs2140756886
NM_002693.3(POLG):c.975dup (p.Thr326fs)
NM_004187.5(KDM5C):c.94G>T (p.Ala32Ser)
NM_004247.4(EFTUD2):c.1904T>A (p.Leu635His) rs2145455460
NM_005629.4(SLC6A8):c.305G>A (p.Gly102Glu) rs2148360123
NM_006015.6(ARID1A):c.6437A>G (p.Lys2146Arg) rs2124149077
NM_006662.3(SRCAP):c.4243dup (p.Met1415fs) rs2151293947
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_007059.4(KPTN):c.985G>C (p.Ala329Pro)
NM_007129.5(ZIC2):c.1377_1406del (p.Ala461_Ala470del) rs756225250
NM_007215.4(POLG2):c.1030C>T (p.Arg344Ter) rs782004592
NM_012431.3(SEMA3E):c.2106C>G (p.Ile702Met) rs2116892082
NM_013275.6(ANKRD11):c.2083A>G (p.Lys695Glu)
NM_014008.5(CCDC22):c.1730C>T (p.Thr577Ile) rs1557115091
NM_014846.4(WASHC5):c.2954+3_2954+4delinsCG
NM_014991.6(WDFY3):c.5242C>T (p.Arg1748Ter) rs1322001449
NM_015100.4(POGZ):c.3476_3477insTAC (p.Val1159_Val1160insThr)
NM_015922.3(NSDHL):c.43C>T (p.Arg15Trp)
NM_017934.7(PHIP):c.5269G>T (p.Glu1757Ter) rs2127677390
NM_019066.5(MAGEL2):c.2212_2232dup (p.Ser738_Ala744dup) rs768384701
NM_031263.4(HNRNPK):c.1225C>T (p.Arg409Trp) rs750307456
NM_032737.4(LMNB2):c.1163T>G (p.Ile388Ser)
NM_133433.4(NIPBL):c.6886A>G (p.Ser2296Gly) rs1401102641
NM_170606.3(KMT2C):c.6035C>A (p.Pro2012His)
NM_181789.4(GLDN):c.79T>C (p.Ser27Pro)

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