List of variants studied for spermatogenic failure by SIB Swiss Institute of Bioinformatics

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_152327.5(AK7):c.2018T>C (p.Leu673Pro)	rs116298211	0.00143
NM_144666.3(DNHD1):c.8782C>T (p.Arg2928Ter)	rs199752008	0.00136
NM_144666.3(DNHD1):c.14234T>C (p.Val4745Ala)	rs185616789	0.00105
NM_144666.3(DNHD1):c.4072C>T (p.Arg1358Cys)	rs12574381	0.00030
NM_001372106.1(DNAH10):c.7955C>T (p.Thr2652Met)	rs764317091	0.00008
NM_001372106.1(DNAH10):c.6017G>A (p.Arg2006Gln)	rs369904884	0.00005
NM_144666.3(DNHD1):c.9649C>T (p.Arg3217Ter)	rs764070280	0.00004
NM_144666.3(DNHD1):c.4141C>T (p.Gln1381Ter)	rs1386324073	0.00002
NM_001372106.1(DNAH10):c.12241C>T (p.Arg4081Cys)	rs755346965	0.00001
NM_001372106.1(DNAH10):c.13192G>A (p.Gly4398Arg)	rs759073156	0.00001
NM_144666.3(DNHD1):c.5560C>T (p.Arg1854Cys)	rs1035842147	0.00001
NM_144666.3(DNHD1):c.911G>A (p.Arg304Gln)	rs369544858	0.00001
NM_001145304.2(IQCN):c.910C>T (p.Gln304Ter)
NM_025103.4(IFT74):c.256G>A (p.Gly86Ser)	rs2131525662
NM_144666.3(DNHD1):c.12453G>A (p.Trp4151Ter)	rs2134462764
NM_144666.3(DNHD1):c.12473A>G (p.His4158Arg)	rs2134462807
NM_144666.3(DNHD1):c.6498T>G (p.Tyr2166Ter)	rs61729699
NM_173628.4(DNAH17):c.1293_1294del (p.Tyr431_Lys432delinsTer)	rs767723684
NM_173628.4(DNAH17):c.5486G>A (p.Cys1829Tyr)	rs1598595659
NM_173628.4(DNAH17):c.[10496C>T;10784T>C]

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