ClinVar Miner

List of variants reported as likely pathogenic for pancreas disorder by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_003122.5(SPINK1):c.-191-24G>A rs191068215 0.00012
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000208.4(INSR):c.1466A>G (p.Asn489Ser) rs121913147 0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410 0.00001
NM_024675.4(PALB2):c.3350+5G>A rs587782566 0.00001
NM_000059.4(BRCA2):c.-39-1_-39del rs758732038
NM_000059.4(BRCA2):c.2279del (p.Leu760fs) rs886038071
NM_000059.4(BRCA2):c.3222dup (p.Ser1075Ter)
NM_000059.4(BRCA2):c.3722_3723insA (p.Phe1241fs)
NM_000059.4(BRCA2):c.4851dup (p.Asp1618Ter)
NM_000059.4(BRCA2):c.6787delinsTT (p.Val2263fs)
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile) rs80359062
NM_000059.4(BRCA2):c.9010_9013del (p.Lys3004fs)
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter) rs80359230
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000208.4(INSR):c.3601C>G (p.Arg1201Gly)
NM_000458.4(HNF1B):c.345-2A>G
NM_000492.4(CFTR):c.-34C>T rs756314710
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_005359.6(SMAD4):c.1541del (p.Pro514fs)
NM_006005.3(WFS1):c.1228del (p.Leu410fs)
NM_006005.3(WFS1):c.2070_2079del (p.Cys690fs)
NM_007294.4(BRCA1):c.4987-5T>C rs397509214
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro) rs80357074
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_024675.4(PALB2):c.2800_2801dup (p.Val934_Ala935insTer)
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.732_733dup (p.Ala245fs)

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