ClinVar Miner

List of variants reported as uncertain significance for pancreas disorder by Baylor Genetics

Included ClinVar conditions (165):
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ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_032609.3(COX4I2):c.175G>C (p.Ala59Pro) rs147223483 0.00101
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_003122.5(SPINK1):c.-147A>G rs779832256 0.00075
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_001042413.2(GLIS3):c.1873-9C>G rs371770632 0.00036
NM_005327.7(HADH):c.349G>C (p.Val117Leu) rs146732064 0.00035
NM_001042413.2(GLIS3):c.2060C>T (p.Ser687Phe) rs374929970 0.00027
NM_001042413.2(GLIS3):c.82A>G (p.Ile28Val) rs113754532 0.00026
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) rs56395521 0.00021
NM_003122.5(SPINK1):c.-142T>C rs755968566 0.00016
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His) rs145935651 0.00011
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558 0.00008
NM_003597.5(KLF11):c.266C>T (p.Ala89Val) rs766187124 0.00007
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser) rs373705613 0.00006
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_000059.4(BRCA2):c.5164A>T (p.Ser1722Cys) rs80358741 0.00003
NM_000208.4(INSR):c.2842+4A>T rs369081376 0.00002
NM_001807.6(CEL):c.1402G>A (p.Ala468Thr) rs777913068 0.00002
NM_000162.5(GCK):c.415A>T (p.Met139Leu) rs368137186 0.00001
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn) rs767123465 0.00001
NM_000455.5(STK11):c.358G>A (p.Glu120Lys) rs775595174 0.00001
NM_001715.3(BLK):c.677A>C (p.Gln226Pro) rs551088779 0.00001
NM_000162.5(GCK):c.692A>T (p.Asn231Ile)
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000340.2(SLC2A2):c.76T>C (p.Tyr26His) rs1716265568
NM_000352.6(ABCC8):c.1096C>T (p.Leu366Phe) rs1956875186
NM_000352.6(ABCC8):c.1630+5G>T rs1956364777
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
NM_000455.5(STK11):c.842C>A (p.Pro281Gln) rs121913322
NM_000525.4(KCNJ11):c.472A>T (p.Met158Leu) rs1953585385
NM_000525.4(KCNJ11):c.539C>A (p.Thr180Asn) rs1953584002
NM_000525.4(KCNJ11):c.803A>T (p.Tyr268Phe) rs1953576929
NM_000545.8(HNF1A):c.1609A>G (p.Thr537Ala)
NM_001042413.2(GLIS3):c.205G>A (p.Ala69Thr) rs1827980738
NM_001042413.2(GLIS3):c.2206C>A (p.His736Asn)
NM_001042413.2(GLIS3):c.2528G>A (p.Arg843Lys) rs1470189708
NM_001042413.2(GLIS3):c.706T>G (p.Ser236Ala)
NM_001379610.1(SPINK1):c.55+5G>A rs879076423
NM_001626.6(AKT2):c.44G>A (p.Arg15His) rs1976263420
NM_001715.3(BLK):c.84C>A (p.Val28=) rs1585387563
NM_001807.6(CEL):c.2029G>T (p.Gly677Trp) rs984492184
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr) rs1845968579
NM_007272.3(CTRC):c.47G>T (p.Ser16Ile)

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