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: 36
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000080.4(CHRNE):c.1457C>T (p.Pro486Leu) rs1969817843
NM_000082.4(ERCC8):c.797A>C (p.Asp266Ala) rs281875225
NM_000520.6(HEXA):c.347A>G (p.Tyr116Cys) rs1282031681
NM_000937.5(POLR2A):c.1943C>A (p.Ser648Ter) rs2070581346
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193
NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter) rs751298016
NM_001190274.2(FBXO11):c.191_199dup (p.Pro64_Pro66dup) rs977093129
NM_001242896.3(DEPDC5):c.4152del (p.Phe1384fs) rs1339126434
NM_001257180.2(SLC20A2):c.1845C>G (p.Asp615Glu) rs2130905407
NM_001347721.2(DYRK1A):c.536_538del (p.Lys179del) rs2052872878
NM_001347721.2(DYRK1A):c.896T>C (p.Phe299Ser) rs1569376809
NM_001375524.1(TRRAP):c.5713A>G (p.Lys1905Glu) rs1791437854
NM_001382391.1(CSPP1):c.2381_2382del (p.Lys794fs) rs1827118960
NM_001394372.1(BICRA):c.1509_1510insA (p.His504fs)
NM_001429.4(EP300):c.7111T>A (p.Ser2371Thr) rs2059220693
NM_001830.4(CLCN4):c.832del (p.Ser278fs) rs1924399093
NM_003072.5(SMARCA4):c.3818A>G (p.His1273Arg) rs1600393629
NM_003620.4(PPM1D):c.1237_1238del (p.Pro413fs) rs1555648565
NM_004595.5(SMS):c.410A>G (p.Asp137Gly) rs1924586809
NM_005121.3(MED13):c.3902C>G (p.Pro1301Arg) rs2143410400
NM_005249.5(FOXG1):c.759C>A (p.Asn253Lys) rs767873754
NM_005559.4(LAMA1):c.8208_8214delinsT (p.Lys2736_Ser2738delinsAsn) rs2057544094
NM_006015.6(ARID1A):c.6518A>T (p.Asn2173Ile) rs1553153783
NM_007118.4(TRIO):c.4387C>T (p.Arg1463Ter) rs748670822
NM_015274.3(MAN2B2):c.1843C>T (p.Gln615Ter)
NM_017635.5(KMT5B):c.972C>G (p.Cys324Trp)
NM_017934.7(PHIP):c.3502dup (p.Ile1168fs) rs1766898088
NM_022552.5(DNMT3A):c.2186G>A (p.Arg729Gln)
NM_024757.5(EHMT1):c.3578G>A (p.Gly1193Glu) rs1956451830
NM_030632.3(ASXL3):c.1669G>T (p.Glu557Ter) rs2067603110
NM_031407.7(HUWE1):c.12559C>A (p.Arg4187Ser) rs121918527
NM_078480.3(PUF60):c.1399C>G (p.Arg467Gly) rs1816345861
NM_130839.5(UBE3A):c.2033A>G (p.Gln678Arg) rs2077166492
NM_181336.4(LEMD2):c.1436C>T (p.Ser479Phe) rs1767330976
NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly) rs1135401770

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