ClinVar Miner

List of variants reported as pathogenic by Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter) rs146689036 0.00041
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) rs543016186 0.00004
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter) rs764286389 0.00001
NM_000156.6(GAMT):c.158_181+7del rs2144640849
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys) rs121918410
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.953G>T (p.Arg318Leu) rs61751443
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001368809.2(AMPD2):c.247G>T (p.Glu83Ter) rs2101154713
NM_001386393.1(PANK2):c.67A>G (p.Met23Val) rs2146804825
NM_003859.3(DPM1):c.1A>G (p.Met1Val) rs139624629
NM_004380.3(CREBBP):c.3369+1del rs2151385509
NM_006517.5(SLC16A2):c.-6_430+5del rs2147833779
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_014491.4(FOXP2):c.559C>T (p.Gln187Ter) rs2129327570
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_018263.6(ASXL2):c.2485C>T (p.Gln829Ter) rs1574390728
NM_019023.5(PRMT7):c.622del (p.Gln208fs) rs2151732301
NM_019597.5(HNRNPH2):c.340C>T (p.Arg114Trp) rs782191163
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)
NM_030665.4(RAI1):c.4525del (p.Gln1509fs) rs2143003068
NM_032382.5(COG8):c.1550_1556del (p.Leu517fs) rs2143335414
Single allele

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