ClinVar Miner

List of variants in gene CFAP43 reported as pathogenic for spermatogenic failure

Included ClinVar conditions (115):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_025145.7(CFAP43):c.1040T>C (p.Val347Ala) rs147356105 0.00016
NM_025145.7(CFAP43):c.4132C>T (p.Arg1378Ter) rs768831533 0.00003
NM_025145.7(CFAP43):c.253C>T (p.Arg85Trp) rs376788209 0.00001
NM_025145.7(CFAP43):c.3352C>T (p.Arg1118Ter) rs760609580 0.00001
NM_025145.7(CFAP43):c.1240_1241del (p.Val414fs) rs753300178
NM_025145.7(CFAP43):c.1302dup (p.Leu435fs) rs1554882484
NM_025145.7(CFAP43):c.2802T>A (p.Cys934Ter) rs373911488
NM_025145.7(CFAP43):c.3541-2A>C rs1554862953
NM_025145.7(CFAP43):c.3661-2del rs1554861288
NM_025145.7(CFAP43):c.386C>A (p.Ser129Tyr) rs1131692266
NM_025145.7(CFAP43):c.3945-263_4431+252del

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