ClinVar Miner

List of variants studied for pancreas disorder by GeneReviews

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000492.4(CFTR):c.1408= (p.Val470=) rs213950 0.43268
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
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_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_007272.3(CTRC):c.164G>A (p.Trp55Ter) rs121909294 0.00004
NM_001379610.1(SPINK1):c.27del (p.Ser10fs) rs193922659 0.00002
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys) rs515726208 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_000162.5(GCK):c.1019+2T>G rs193929376
NM_000162.5(GCK):c.1133C>T (p.Ala378Val) rs193929374
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.5(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.790G>A (p.Gly264Ser) rs193929373
NM_000207.2(INS):c.(?_-191)_(187_?)+1del
NM_000207.2(INS):c.-187_-164del rs1135401727
NM_000207.3(INS):c.*59A>G rs397515519
NM_000207.3(INS):c.-152C>A rs748749585
NM_000207.3(INS):c.-152C>G rs748749585
NM_000207.3(INS):c.-39A>C rs1554921033
NM_000207.3(INS):c.127T>G (p.Cys43Gly) rs80356666
NM_000207.3(INS):c.140G>T (p.Gly47Val) rs80356667
NM_000207.3(INS):c.143T>G (p.Phe48Cys) rs80356668
NM_000207.3(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000207.3(INS):c.268G>T (p.Gly90Cys) rs80356670
NM_000207.3(INS):c.287G>A (p.Cys96Tyr) rs80356671
NM_000207.3(INS):c.323A>G (p.Tyr108Cys) rs80356672
NM_000207.3(INS):c.3G>A (p.Met1Ile) rs397515521
NM_000207.3(INS):c.3G>T (p.Met1Ile) rs397515521
NM_000207.3(INS):c.71C>A (p.Ala24Asp) rs80356663
NM_000207.3(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000207.3(INS):c.94G>C (p.Gly32Arg) rs80356664
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly) rs387906777
NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys) rs80356651
NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser) rs80356634
NM_000352.6(ABCC8):c.257T>C (p.Val86Ala) rs193929360
NM_000352.6(ABCC8):c.257T>G (p.Val86Gly) rs193929360
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr) rs193929369
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) rs80356637
NM_000352.6(ABCC8):c.394T>G (p.Phe132Val) rs80356637
NM_000352.6(ABCC8):c.404T>C (p.Leu135Pro) rs193929364
NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val) rs80356653
NM_000352.6(ABCC8):c.627C>A (p.Asp209Glu) rs80356640
NM_000352.6(ABCC8):c.631C>A (p.Gln211Lys) rs193929366
NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg) rs80356642
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro) rs1048095
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.3963-78_4242+577del
NM_000492.3(CFTR):c.54-5940_273+10250del
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000525.4(KCNJ11):c.1001G>A (p.Gly334Asp) rs193929358
NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu) rs193929333
NM_000525.4(KCNJ11):c.103T>G (p.Phe35Val) rs193929333
NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg) rs80356610
NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro) rs80356611
NM_000525.4(KCNJ11):c.155A>G (p.Gln52Arg) rs193929337
NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser) rs80356613
NM_000525.4(KCNJ11):c.157G>C (p.Gly53Arg) rs80356613
NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp) rs80356615
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) rs80356616
NM_000525.4(KCNJ11):c.176T>G (p.Val59Gly) rs80356617
NM_000525.4(KCNJ11):c.497G>A (p.Cys166Tyr) rs80356618
NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe) rs80356618
NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu) rs80356620
NM_000525.4(KCNJ11):c.509A>G (p.Lys170Arg) rs80356621
NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn) rs80356622
NM_000525.4(KCNJ11):c.544A>G (p.Ile182Val) rs193929348
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) rs80356625
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.4(KCNJ11):c.602G>T (p.Arg201Leu) rs80356624
NM_000525.4(KCNJ11):c.755T>C (p.Val252Ala) rs193929352
NM_000525.4(KCNJ11):c.886A>C (p.Ile296Leu) rs193929353
NM_000525.4(KCNJ11):c.886A>G (p.Ile296Val) rs193929353
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys) rs193929355
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys) rs193929356
NM_000525.4(KCNJ11):c.997T>A (p.Phe333Ile) rs193929357
NM_001379610.1(SPINK1):c.150T>G (p.Asp50Glu) rs515726206
NM_001379610.1(SPINK1):c.160T>C (p.Tyr54His) rs515726207
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) rs515726210
NP_002760.1(PRSS1):p.Cys139Ser

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