List of variants in gene PMFBP1 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_031293.3(PMFBP1):c.2725C>T (p.Arg909Ter)	rs140352254	0.00010
NM_031293.3(PMFBP1):c.327T>A (p.Tyr109Ter)	rs759127010	0.00001
NM_031293.3(PMFBP1):c.1462C>T (p.Gln488Ter)	rs777263062
NM_031293.3(PMFBP1):c.2092del (p.Ala698fs)	rs1567621034
NM_031293.3(PMFBP1):c.2278_2281del (p.Lys760fs)	rs769554360
NM_031293.3(PMFBP1):c.2561_2562del (p.Lys854fs)	rs772371753
NM_031293.3(PMFBP1):c.841C>T (p.Gln281Ter)

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