ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_018055.5(NODAL):c.823C>T (p.Arg275Cys) rs781366461 0.00005
NM_000111.3(SLC26A3):c.269_270dup (p.Gly91fs) rs386833476 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_181789.4(GLDN):c.1240C>T (p.Arg414Ter) rs539703340 0.00001
NM_000111.3(SLC26A3):c.1000G>T (p.Glu334Ter) rs1208952914
NM_000111.3(SLC26A3):c.2006C>A (p.Ser669Ter) rs762034228
NM_001077365.2(POMT1):c.110_113dup (p.Val40fs) rs1564325733
NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter) rs1945766589
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter) rs980305935
NM_001378615.1(CC2D2A):c.3293T>G (p.Leu1098Ter) rs1719950579
NM_001384125.1(BLTP1):c.9153del (p.Val3052fs) rs1773935759
NM_005055.5(RAPSN):c.1146C>A (p.Cys382Ter) rs2076335306
NM_005055.5(RAPSN):c.149_153delinsAGATGGGCCGCTACAAGGAGATGG (p.Val50fs) rs1131691986
NM_019066.5(MAGEL2):c.1996del (p.Gln666fs) rs770374710
NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter) rs774410421
NM_203486.3(DLL3):c.661C>T (p.Arg221Ter) rs200275281

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