ClinVar Miner

List of variants studied for spermatogenic failure by Revvity Omics, Revvity

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met) rs142438011 0.00168
NM_001206927.2(DNAH8):c.8869C>T (p.Arg2957Cys) rs143707632 0.00059
NM_001008723.2(CFAP58):c.2092C>T (p.Arg698Ter) rs369701921 0.00016
NM_031293.3(PMFBP1):c.2725C>T (p.Arg909Ter) rs140352254 0.00010
NM_001206927.2(DNAH8):c.3129T>A (p.Asp1043Glu) rs573755164 0.00009
NM_001206927.2(DNAH8):c.2100T>G (p.Ile700Met) rs758338554 0.00001
NM_033123.4(PLCZ1):c.193C>T (p.Arg65Ter) rs745955620 0.00001
NM_001008723.2(CFAP58):c.1360C>T (p.Gln454Ter)
NM_001136046.3(ZMYND15):c.1520_1523del (p.Lys507fs) rs587777432
NM_001177949.2(SYCP3):c.484C>T (p.Gln162Ter)
NM_001206927.2(DNAH8):c.13082C>T (p.Pro4361Leu)
NM_001206927.2(DNAH8):c.13546A>G (p.Asn4516Asp)
NM_001206927.2(DNAH8):c.5768A>T (p.His1923Leu)
NM_001304548.2(CFAP47):c.6709G>A (p.Val2237Ile)
NM_001321739.2(M1AP):c.595+3A>G
NM_001350162.2(TEX15):c.933C>G (p.Phe311Leu)
NM_004654.4(USP9Y):c.3835C>G (p.Leu1279Val)
NM_004654.4(USP9Y):c.5924C>T (p.Thr1975Ile)
NM_031293.3(PMFBP1):c.1009G>A (p.Glu337Lys)
NM_080675.4(SUN5):c.381del (p.Val128fs) rs781693813
NM_144666.3(DNHD1):c.3457G>T (p.Glu1153Ter)
NM_144666.3(DNHD1):c.5662C>T (p.Leu1888=)
NM_144666.3(DNHD1):c.8246T>C (p.Leu2749Pro)
NM_152467.5(KLHL10):c.1014A>C (p.Lys338Asn)
NM_173812.5(DPY19L2):c.1816C>T (p.Arg606Cys)

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