ClinVar Miner

List of variants in gene CFAP44, LOC127898559 studied for spermatogenic failure

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001164496.2(CFAP44):c.670C>T (p.Arg224Ter) rs768429457 0.00006
NM_001164496.2(CFAP44):c.2005_2006del (p.Met669fs) rs780798708 0.00001
NM_001164496.2(CFAP44):c.1303G>T (p.Gly435Ter)
NM_001164496.2(CFAP44):c.1769T>A (p.Leu590Gln) rs762760856
NM_001164496.2(CFAP44):c.2818dup (p.Glu940fs) rs1553756824
NM_001164496.2(CFAP44):c.316T>C (p.Ser106Pro) rs749618390
NM_001164496.2(CFAP44):c.3175C>T (p.Arg1059Ter) rs1262272674

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