ClinVar Miner

List of variants in gene SPINK5 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_006846.4(SPINK5):c.2667-4G>A rs180955184 0.00542
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_006846.4(SPINK5):c.1605G>T (p.Val535=) rs201831966 0.00259
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) rs190657753 0.00132
NM_006846.4(SPINK5):c.2124T>C (p.Ala708=) rs200884153 0.00058
NM_006846.4(SPINK5):c.3189C>T (p.Asp1063=) rs200751535 0.00018
NM_006846.4(SPINK5):c.1896C>T (p.Cys632=) rs764541508 0.00009
NM_006846.4(SPINK5):c.753C>T (p.Gly251=) rs376643233 0.00006
NM_006846.4(SPINK5):c.1245A>G (p.Lys415=) rs764133865 0.00001
NM_006846.4(SPINK5):c.24G>A (p.Val8=) rs1231950922 0.00001
NM_006846.4(SPINK5):c.1980C>T (p.Thr660=)
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1]) rs554634510
NM_006846.4(SPINK5):c.417C>T (p.Thr139=)

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