ClinVar Miner

List of variants reported as likely pathogenic by Center for Reproductive Medicine, Peking University Third Hospital

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_031307.4(PUS3):c.838C>T (p.Arg280Ter) rs374443634 0.00002
NM_001142864.4(PIEZO1):c.1536_1537del (p.Cys513fs) rs914435870 0.00001
NM_001384125.1(BLTP1):c.3323+1G>A rs775292946 0.00001
NM_031307.4(PUS3):c.340T>C (p.Cys114Arg) rs752052349 0.00001
NM_181789.4(GLDN):c.1027G>A (p.Gly343Ser) rs867806350 0.00001
NM_000540.3(RYR1):c.2286del (p.Val763fs) rs1967600281
NM_001142864.4(PIEZO1):c.4610_4617dup (p.Ser1540delinsAlaProTer) rs1904291954
NM_001286577.2(C2CD3):c.159_160insC (p.Lys54fs) rs1856949467
NM_001286577.2(C2CD3):c.3741G>C (p.Gln1247His) rs151187151
NM_001377.3(DYNC2H1):c.5920G>T (p.Gly1974Ter) rs1861879186
NM_001384125.1(BLTP1):c.692del (p.Phe231fs) rs1741122462
NM_001384732.1(CPLANE1):c.3707delinsTT (p.Pro1236fs) rs1787294032
NM_001384732.1(CPLANE1):c.8155_8156del (p.Ser2719fs) rs1774291665
NM_005089.4(ZRSR2):c.1207_1208del (p.Arg403fs) rs1933151965
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter) rs267606725
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) rs764266722
NM_007363.5(NONO):c.246_249del (p.Pro83fs) rs2031334549
NM_014009.4(FOXP3):c.1117TTC[1] (p.Phe374del) rs2066032846
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351

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