ClinVar Miner

List of variants in gene SPINK5 reported as uncertain significance by Santos-Cortez Lab, University of Colorado School of Medicine

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Total variants: 8
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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.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_006846.4(SPINK5):c.551G>A (p.Gly184Asp) rs201812473 0.00024
NM_006846.4(SPINK5):c.2493T>A (p.Asn831Lys) rs760919933 0.00001
NM_006846.4(SPINK5):c.*74A>G rs1754713291
NM_006846.4(SPINK5):c.1345C>A (p.Leu449Ile) rs1431744993
NM_006846.4(SPINK5):c.2974A>T (p.Met992Leu) rs1561708913
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter) rs199757347

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