ClinVar Miner

List of variants in gene SPINK5 reported as uncertain significance by GeneDx

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00298
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576 0.00297
NM_006846.4(SPINK5):c.1960C>T (p.Arg654Cys) rs199567491 0.00041
NM_006846.4(SPINK5):c.677A>G (p.Lys226Arg) rs370010334 0.00006
NM_006846.4(SPINK5):c.1499G>A (p.Arg500Gln) rs201428589 0.00005
NM_006846.4(SPINK5):c.2558G>A (p.Arg853Gln) rs376107938 0.00005
NM_006846.4(SPINK5):c.1681G>A (p.Glu561Lys) rs771426270 0.00003
NM_006846.4(SPINK5):c.2964G>A (p.Leu988=) rs760791426 0.00003
NM_006846.4(SPINK5):c.1366G>T (p.Asp456Tyr) rs757370601 0.00002
NM_006846.4(SPINK5):c.1480-10C>A rs375718943 0.00002
NM_006846.4(SPINK5):c.2116G>A (p.Glu706Lys) rs774685134 0.00002
NM_006846.4(SPINK5):c.1898A>G (p.Asp633Gly) rs757295553 0.00001
NM_006846.4(SPINK5):c.2138A>T (p.Gln713Leu) rs762624618 0.00001
NM_006846.4(SPINK5):c.2264A>G (p.Asn755Ser) rs569828389 0.00001
NM_006846.4(SPINK5):c.840G>T (p.Leu280Phe) rs759053532 0.00001
NM_006846.4(SPINK5):c.1087T>C (p.Tyr363His) rs1554104431
NM_006846.4(SPINK5):c.1177G>A (p.Gly393Arg)
NM_006846.4(SPINK5):c.13A>C (p.Thr5Pro)
NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly) rs1753847242
NM_006846.4(SPINK5):c.2208CAA[1] (p.Asn738del) rs781321238
NM_006846.4(SPINK5):c.2739+10del rs769519367
NM_006846.4(SPINK5):c.2759G>A (p.Arg920Gln) rs371134163
NM_006846.4(SPINK5):c.410+6T>C rs1554103297
NM_006846.4(SPINK5):c.991T>C (p.Ser331Pro)

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