ClinVar Miner

List of variants studied for Gastrointestinal stromal tumor by Department of Pharmacy and Biotechnology, University of Bologna

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_194255.4(SLC19A1):c.80A>G (p.His27Arg) rs1051266 0.51413
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_004169.5(SHMT1):c.1420C>T (p.Leu474Phe) rs1979277 0.31369
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NC_000005.10:g.80654344_80654345insTGGCGCGTCCCGCCCAGGT rs70991108
NC_000018.10:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9] rs45445694
NM_000802.3(FOLR1):c.-20G>A rs2071010

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