ClinVar Miner

List of variants reported as likely pathogenic for pancreatic neoplasm

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) rs1057519725 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.3113+5G>C rs876659463 0.00001
NM_024675.4(PALB2):c.3350+5G>A rs587782566 0.00001
NM_000051.4(ATM):c.8584+1G>C rs876658182
NM_000059.4(BRCA2):c.-39-1_-39del rs758732038
NM_000059.4(BRCA2):c.1394_1403del (p.Val465fs)
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
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.3897_3901del (p.Glu1299fs)
NM_000059.4(BRCA2):c.4234_4236delinsC (p.Thr1412fs)
NM_000059.4(BRCA2):c.4851dup (p.Asp1618Ter)
NM_000059.4(BRCA2):c.6415G>T (p.Glu2139Ter) rs763639231
NM_000059.4(BRCA2):c.6787delinsTT (p.Val2263fs)
NM_000059.4(BRCA2):c.7402dup (p.Val2468fs)
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_000077.5(CDKN2A):c.151-2A>G rs1554654224
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) rs730881674
NM_000455.5(STK11):c.719C>G (p.Ser240Trp) rs730881976
NM_000455.5(STK11):c.810del (p.Ser271fs)
NM_000546.6(TP53):c.1101-1G>A rs876658982
NM_000546.6(TP53):c.298del (p.Gln100fs) rs1567556006
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_004629.2(FANCG):c.778-2A>C rs2131056131
NM_005359.6(SMAD4):c.1060_1066delinsT (p.Val354_Pro356delinsSer)
NM_005359.6(SMAD4):c.1541del (p.Pro514fs)
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.4987-5T>C rs397509214
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr) rs1555579648
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
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.109-2A>G rs730881897
NM_024675.4(PALB2):c.1183del (p.Ser395fs) rs1555461415
NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter) rs1555460431
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs) rs1555460334
NM_024675.4(PALB2):c.2515-1G>A rs587776417
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2748+1G>A rs753153576
NM_024675.4(PALB2):c.2800_2801dup (p.Val934_Ala935insTer)
NM_024675.4(PALB2):c.2878del (p.Leu960fs) rs1064795824
NM_024675.4(PALB2):c.2974_2975del (p.Met992fs) rs1966798806
NM_024675.4(PALB2):c.2997-161_3113+4del rs2142325910
NM_024675.4(PALB2):c.3087del (p.Thr1030fs)
NM_024675.4(PALB2):c.3351-1G>A rs1597062406
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter) rs1555457867
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.71_73delinsGG (p.Leu24fs) rs1967112121
NM_024675.4(PALB2):c.732_733dup (p.Ala245fs)
NM_024675.4(PALB2):c.892_893del (p.Val298fs) rs2142431841
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_024675.4:c.3179_3180insALU
NM_033360.4(KRAS):c.490C>T (p.Arg164Ter)

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