ClinVar Miner

List of variants in gene SPEF2 studied for spermatogenic failure

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_024867.4(SPEF2):c.2800G>C (p.Ala934Pro) rs13170390 0.75205
NM_024867.4(SPEF2):c.2914+19T>G rs10073537 0.75205
NM_024867.4(SPEF2):c.2711C>T (p.Ala904Val) rs13170082 0.75201
NM_024867.4(SPEF2):c.579T>C (p.Ile193=) rs7706444 0.69286
NM_024867.4(SPEF2):c.1167+46T>C rs9292598 0.60392
NM_024867.4(SPEF2):c.211A>C (p.Asn71His) rs6897513 0.59724
NM_024867.4(SPEF2):c.861C>T (p.Asp287=) rs2270558 0.59301
NM_024867.4(SPEF2):c.2142T>C (p.Asn714=) rs6451206 0.54517
NM_024867.4(SPEF2):c.3331-11T>C rs11957963 0.53280
NM_024867.4(SPEF2):c.398G>A (p.Ser133Asn) rs148174540 0.00207
NM_024867.4(SPEF2):c.1633C>T (p.Pro545Ser) rs185000070 0.00143
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.1379A>G (p.His460Arg)
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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