List of variants in gene SPEF2 reported as pathogenic for spermatogenic failure

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_024867.4(SPEF2):c.1745-2A>G	rs1375975527	0.00001
NM_024867.4(SPEF2):c.4102G>T (p.Glu1368Ter)	rs1230916222	0.00001
NM_024867.4(SPEF2):c.13del (p.Leu5fs)	rs1391102782
NM_024867.4(SPEF2):c.2735del (p.Pro912fs)	rs1580383744
NM_024867.4(SPEF2):c.3240del (p.Phe1080fs)	rs1580529760
NM_024867.4(SPEF2):c.4326dup (p.Val1443fs)	rs1580704451
NM_024867.4(SPEF2):c.4952del (p.Val1651fs)	rs1580783651

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