ClinVar Miner

List of variants reported as not provided by Database of Curated Mutations (DoCM)

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=) rs1045642 0.57896
NM_000852.4(GSTP1):c.313A>G (p.Ile105Val) rs1695 0.36578
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000903.3(NQO1):c.559C>T (p.Pro187Ser) rs1800566 0.20869
NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) rs2231142 0.09384
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_006297.3(XRCC1):c.580C>T (p.Arg194Trp) rs1799782 0.06906
NM_002412.5(MGMT):c.-28C>T rs16906252 0.05114
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser) rs115169993 0.00292
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_006182.4(DDR2):c.187C>G (p.Leu63Val) rs144594252 0.00006
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp) rs751007903 0.00002
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) rs1057519725 0.00001
NM_005228.5(EGFR):c.2170G>A (p.Gly724Ser) rs1051753269 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_000044.6(AR):c.2629T>C (p.Phe877Leu) rs1057519864
NM_000051.4(ATM):c.8623A>C (p.Asn2875His) rs1057519869
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser) rs1057519826
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) rs121913513
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_001184.4(ATR):c.2320del (p.Ile774fs) rs757500301
NM_001348946.2(ABCB1):c.2677T>A (p.Ser893Thr) rs2032582
NM_001351169.2(NT5C2):c.1075A>C (p.Lys359Gln) rs1057519867
NM_001654.5(ARAF):c.641C>G (p.Ser214Cys) rs1057519786
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) rs121913503
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_004304.5(ALK):c.3455T>G (p.Leu1152Arg) rs1057519785
NM_004304.5(ALK):c.3467G>A (p.Cys1156Tyr) rs1057519859
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu) rs863225281
NM_004304.5(ALK):c.3586C>A (p.Leu1196Met) rs1057519784
NM_004304.5(ALK):c.3604G>A (p.Gly1202Arg) rs1057519783
NM_004304.5(ALK):c.3617C>A (p.Ser1206Tyr) rs1057519782
NM_004304.5(ALK):c.3806G>C (p.Gly1269Ala) rs1057519781
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) rs1057519862
NM_004958.4(MTOR):c.5902C>T (p.His1968Tyr) rs1057519870
NM_004958.4(MTOR):c.6637C>T (p.Pro2213Ser) rs1057519871
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys) rs121913530
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_005157.6(ABL1):c.949T>C (p.Phe317Leu) rs1057519773
NM_005228.5(EGFR):c.1476C>A (p.Ser492Arg) rs1057519860
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) rs28929495
NM_005228.5(EGFR):c.2389T>A (p.Cys797Ser) rs1057519861
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_006182.4(DDR2):c.1912A>T (p.Ile638Phe) rs1057519789
NM_006182.4(DDR2):c.2304T>A (p.Ser768Arg) rs267598140
NM_006182.4(DDR2):c.2321G>T (p.Gly774Val) rs1057519790
NM_006182.4(DDR2):c.757G>T (p.Gly253Cys) rs376303676
NM_006206.6(PDGFRA):c.1682T>C (p.Val561Ala) rs121908586
NM_006218.4(PIK3CA):c.1412C>T (p.Pro471Leu) rs1057519872
NM_006758.3(U2AF1):c.470A>C (p.Gln157Pro) rs371246226
NM_006908.5(RAC1):c.85C>T (p.Pro29Ser) rs1057519874
NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn) rs377023736
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_017617.5(NOTCH1):c.4924G>C (p.Asp1642His) rs1057519863
NM_023067.4(FOXL2):c.402C>G (p.Cys134Trp) rs1057519865

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