ClinVar Miner

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

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Gene type:
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Total variants: 46
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HGVS dbSNP
NC_000005.9:g.(?_147516526)_(147516574_?)del
NM_006846.3(SPINK5):c.1144A>T (p.Thr382Ser) rs770766012
NM_006846.3(SPINK5):c.1188_1189inv (p.Gly397Ser)
NM_006846.3(SPINK5):c.1355C>T (p.Thr452Ile) rs1321102136
NM_006846.3(SPINK5):c.1373T>C (p.Ile458Thr)
NM_006846.3(SPINK5):c.139G>T (p.Asp47Tyr)
NM_006846.3(SPINK5):c.1499G>A (p.Arg500Gln)
NM_006846.3(SPINK5):c.1526T>C (p.Ile509Thr)
NM_006846.3(SPINK5):c.1553G>A (p.Arg518His) rs576310290
NM_006846.3(SPINK5):c.1592T>G (p.Met531Arg) rs985590287
NM_006846.3(SPINK5):c.1660G>A (p.Glu554Lys)
NM_006846.3(SPINK5):c.1825C>A (p.Gln609Lys) rs1366194827
NM_006846.3(SPINK5):c.1875A>T (p.Arg625Ser) rs373811778
NM_006846.3(SPINK5):c.1887G>C (p.Lys629Asn)
NM_006846.3(SPINK5):c.1907G>A (p.Arg636Gln) rs758747211
NM_006846.3(SPINK5):c.1960C>T (p.Arg654Cys) rs199567491
NM_006846.3(SPINK5):c.2168G>A (p.Arg723Gln)
NM_006846.3(SPINK5):c.2208_2210CAA[1] (p.Asn738del) rs781321238
NM_006846.3(SPINK5):c.2276G>A (p.Arg759His) rs781193914
NM_006846.3(SPINK5):c.2296G>A (p.Gly766Arg)
NM_006846.3(SPINK5):c.2419T>G (p.Cys807Gly)
NM_006846.3(SPINK5):c.2494_2511ACAGGAGAAAGGAGCAAT[1] (p.832_837TGERSN[1]) rs554634510
NM_006846.3(SPINK5):c.2531A>G (p.Asp844Gly)
NM_006846.3(SPINK5):c.2558G>A (p.Arg853Gln)
NM_006846.3(SPINK5):c.2632C>T (p.His878Tyr)
NM_006846.3(SPINK5):c.2830T>G (p.Phe944Val) rs1169533706
NM_006846.3(SPINK5):c.2863G>C (p.Val955Leu)
NM_006846.3(SPINK5):c.2939A>G (p.Asp980Gly)
NM_006846.3(SPINK5):c.2963T>C (p.Leu988Pro)
NM_006846.3(SPINK5):c.3075C>T (p.Cys1025=)
NM_006846.3(SPINK5):c.3077T>G (p.Met1026Arg)
NM_006846.3(SPINK5):c.3091A>G (p.Asn1031Asp)
NM_006846.3(SPINK5):c.3101G>A (p.Arg1034His) rs775295911
NM_006846.3(SPINK5):c.3113C>A (p.Thr1038Lys)
NM_006846.3(SPINK5):c.3121C>T (p.Arg1041Cys)
NM_006846.3(SPINK5):c.313A>G (p.Arg105Gly)
NM_006846.3(SPINK5):c.341A>G (p.Tyr114Cys) rs764853169
NM_006846.3(SPINK5):c.418G>A (p.Gly140Arg)
NM_006846.3(SPINK5):c.524G>A (p.Cys175Tyr) rs1279742014
NM_006846.3(SPINK5):c.551G>A (p.Gly184Asp)
NM_006846.3(SPINK5):c.59C>T (p.Ala20Val)
NM_006846.3(SPINK5):c.603-3C>T rs185217593
NM_006846.3(SPINK5):c.677A>G (p.Lys226Arg) rs370010334
NM_006846.3(SPINK5):c.730G>A (p.Asp244Asn)
NM_006846.3(SPINK5):c.753C>T (p.Gly251=)
NM_006846.3(SPINK5):c.799_800delinsAG (p.Gln267Arg)

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