ClinVar Miner

List of variants in gene SPINK1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=) rs35006579 0.00133
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=) rs147454311 0.00048
NM_001379610.1(SPINK1):c.198A>C (p.Lys66Asn) rs143014431 0.00034
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_001379610.1(SPINK1):c.-15C>T rs148434824 0.00006
NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg) rs760077990 0.00004
NM_001379610.1(SPINK1):c.-14G>A rs373391756 0.00002
NM_001379610.1(SPINK1):c.27del (p.Ser10fs) rs193922659 0.00002
NM_001379610.1(SPINK1):c.193C>T (p.Arg65Trp) rs536203389 0.00001
NM_001379610.1(SPINK1):c.194+6T>C rs761201715 0.00001
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys) rs515726208 0.00001
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu) rs369163833 0.00001
NM_001379610.1(SPINK1):c.38C>T (p.Ala13Val) rs770387107 0.00001
NM_001379610.1(SPINK1):c.82A>G (p.Arg28Gly) rs375368064 0.00001
NM_001379610.1(SPINK1):c.*10_*38del
NM_001379610.1(SPINK1):c.*64del
NM_001379610.1(SPINK1):c.-1C>A
NM_001379610.1(SPINK1):c.121A>G (p.Lys41Glu) rs1554089812
NM_001379610.1(SPINK1):c.128A>G (p.Tyr43Cys) rs1561605311
NM_001379610.1(SPINK1):c.165del (p.Asn56fs) rs1756441909
NM_001379610.1(SPINK1):c.168T>A (p.Asn56Lys) rs1756441667
NM_001379610.1(SPINK1):c.188A>G (p.Glu63Gly) rs1223176202
NM_001379610.1(SPINK1):c.195-7A>G rs1554089593
NM_001379610.1(SPINK1):c.216C>T (p.Leu72=)
NM_001379610.1(SPINK1):c.217A>T (p.Ile73Phe) rs982462613
NM_001379610.1(SPINK1):c.2T>G (p.Met1Arg) rs104893938
NM_001379610.1(SPINK1):c.35T>C (p.Leu12Ser)
NM_001379610.1(SPINK1):c.55+1G>T rs1561606446
NM_001379610.1(SPINK1):c.56-91_56-90del
NM_001379610.1(SPINK1):c.87+7A>T rs1756473313
NM_001379610.1(SPINK1):c.93_101del (p.Lys31_Tyr33del) rs767903021

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