ClinVar Miner

List of variants reported as likely pathogenic by Center for Statistical Genetics, Columbia University

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_177939.3(P4HTM):c.1238C>T (p.Pro413Leu) rs757914897 0.00003
GRCh38/hg38 Xq12(chrX:68203479-68224263)x2
NC_000021.9:g.33542069_33544417del
NC_000023.10:g.[(?_29619835)_(29843303_?);(?_30646799)_(30848980_?)dup]
NM_001012614.2(CTBP1):c.125_127del (p.Phe42del) rs1731781760
NM_001037333.3(CYFIP2):c.1651G>C (p.Val551Leu)
NM_001142966.3(GREB1L):c.848A>G (p.Asn283Ser) rs2033773650
NM_001165963.4(SCN1A):c.725A>G (p.Gln242Arg) rs1574266328
NM_001348768.2(HECW2):c.2587T>C (p.Tyr863His) rs1691301206
NM_001348768.2(HECW2):c.3597C>A (p.Asn1199Lys) rs1688479407
NM_001348768.2(HECW2):c.3980T>C (p.Phe1327Ser) rs1687828601
NM_001348768.2(HECW2):c.412A>G (p.Ile138Val) rs1692479893
NM_001348768.2(HECW2):c.4323T>G (p.Phe1441Leu) rs1687614121
NM_001348768.2(HECW2):c.4355G>T (p.Gly1452Val) rs1027776486
NM_001348768.2(HECW2):c.4507A>G (p.Thr1503Ala) rs1687461840
NM_001348768.2(HECW2):c.4511C>A (p.Ser1504Tyr) rs1687461391
NM_001852.4(COL9A2):c.1145G>T (p.Gly382Val) rs1431787303
NM_002291.3(LAMB1):c.5002del (p.Glu1668fs) rs1278743247
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala) rs765744298
NM_004535.3(MYT1):c.790G>C (p.Glu264Gln) rs1983540456
NM_004604.5(STX4):c.232+6T>C
NM_004818.3(DDX23):c.2437C>T (p.Arg813Cys)
NM_006005.3(WFS1):c.923C>G (p.Ser308Cys) rs2109125016
NM_007118.4(TRIO):c.3908C>T (p.Thr1303Ile) rs1746764895
NM_022893.4(BCL11A):c.1675_*1445del (p.Ser559fs)
NM_022893.4(BCL11A):c.977C>A (p.Thr326Lys) rs1676326365
NM_030665.4(RAI1):c.3594G>T (p.Arg1198Ser) rs2032257286
NM_138459.5(NUS1):c.616G>T (p.Asp206Tyr)
NM_152703.5(SAMD9L):c.2722A>G (p.Ile908Val) rs1792226793
NM_173477.5(USH1G):c.314C>T (p.Ala105Val) rs1567940507
Single allele

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