ClinVar Miner

List of variants reported as benign for glucose metabolism disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_000507.4(FBP1):c.960A>G (p.Gly320=) rs1769257 0.88821
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212 0.80149
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_001042413.2(GLIS3):c.938G>C (p.Gly313Ala) rs35154632 0.01104
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_003597.5(KLF11):c.429C>T (p.Ala143=) rs113903638 0.00679
NM_138711.6(PPARG):c.1281A>G (p.Ser427=) rs41516544 0.00627
NM_001040716.2(PC):c.85G>A (p.Val29Ile) rs45471099 0.00394
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_000352.6(ABCC8):c.2391-17G>T rs201484528 0.00206
NM_006208.3(ENPP1):c.313+11_313+15del rs771304080 0.00163
NM_000162.5(GCK):c.364-18A>G rs191255582 0.00118
NM_012096.3(APPL1):c.219T>C (p.Phe73=) rs150282222 0.00108
NM_001807.6(CEL):c.1485-8C>T rs185188893 0.00072
NM_175914.5(HNF4A):c.427-20C>T rs184217112 0.00008
NM_001715.3(BLK):c.672C>T (p.Ala224=) rs201252364 0.00004
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_001715.3(BLK):c.39G>A (p.Lys13=) rs142129056
NM_001807.6(CEL):c.1659C>G (p.Thr553=) rs78256304
NM_004563.4(PCK2):c.1469-3dup rs61497654

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