List of variants in gene PMFBP1 studied for spermatogenic failure

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_031293.3(PMFBP1):c.2739A>C (p.Lys913Asn)	rs16973716	0.45950
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.1009G>A (p.Glu337Lys)
NM_031293.3(PMFBP1):c.1462C>T (p.Gln488Ter)	rs777263062
NM_031293.3(PMFBP1):c.1888G>T (p.Glu630Ter)
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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