ClinVar Miner

List of variants reported as likely pathogenic by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

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Total variants: 27
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HGVS dbSNP
NM_000080.4(CHRNE):c.1457C>T (p.Pro486Leu)
NM_000082.4(ERCC8):c.797A>C (p.Asp266Ala)
NM_000520.6(HEXA):c.347A>G (p.Tyr116Cys)
NM_000937.5(POLR2A):c.1943C>A (p.Ser648Ter)
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193
NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter)
NM_001190274.2(FBXO11):c.191_199dup (p.Pro64_Pro66dup)
NM_001242896.3(DEPDC5):c.4152del (p.Phe1384fs)
NM_001347721.2(DYRK1A):c.536_538del (p.Lys179del)
NM_001347721.2(DYRK1A):c.896T>C (p.Phe299Ser) rs1569376809
NM_001375524.1(TRRAP):c.5713A>G (p.Lys1905Glu)
NM_001382391.1(CSPP1):c.2381_2382del (p.Lys794fs)
NM_001429.4(EP300):c.7111T>A (p.Ser2371Thr)
NM_001830.4(CLCN4):c.832del (p.Ser278fs)
NM_003620.3(PPM1D):c.1237_1238del (p.Pro413fs) rs1555648565
NM_004595.5(SMS):c.410A>G (p.Asp137Gly)
NM_005249.5(FOXG1):c.759C>A (p.Asn253Lys)
NM_005559.4(LAMA1):c.8208_8214delinsT (p.Lys2736_Ser2738delinsAsn)
NM_006015.6(ARID1A):c.6518A>T (p.Asn2173Ile)
NM_007118.4(TRIO):c.4387C>T (p.Arg1463Ter)
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_017934.7(PHIP):c.3502dup (p.Ile1168fs)
NM_024757.5(EHMT1):c.3578G>A (p.Gly1193Glu)
NM_030632.3(ASXL3):c.1669G>T (p.Glu557Ter)
NM_078480.3(PUF60):c.1399C>G (p.Arg467Gly)
NM_130839.5(UBE3A):c.2033A>G (p.Gln678Arg)
NM_181336.4(LEMD2):c.1436C>T (p.Ser479Phe)

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