ClinVar Miner

List of variants reported as uncertain significance by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01112
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126 0.00080
NM_013432.5(TONSL):c.2891C>T (p.Ala964Val) rs778431357 0.00009
NM_147127.5(EVC2):c.1470+3A>T rs370769794 0.00007
NM_001303.4(COX10):c.1061G>A (p.Arg354Gln) rs745492359 0.00005
NM_000282.4(PCCA):c.819+9A>G rs372739944 0.00004
NM_000330.4(RS1):c.326+1131G>A rs267608664 0.00004
NM_000532.5(PCCB):c.543G>C (p.Leu181=) rs777868289 0.00002
NM_001015880.2(PAPSS2):c.784G>A (p.Glu262Lys) rs776611898 0.00002
NR_003051.4(RMRP):n.17C>T rs772664375 0.00002
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg) rs199810179 0.00001
NM_001184880.2(PCDH19):c.1549G>A (p.Ala517Thr) rs778072039 0.00001
NM_001330260.2(SCN8A):c.160A>C (p.Lys54Gln) rs755721954 0.00001
NM_018060.4(IARS2):c.2669T>G (p.Leu890Arg) rs1409898715 0.00001
NR_003051.4(RMRP):n.77C>T rs902757638 0.00001
NM_000023.4(SGCA):c.434C>A (p.Ala145Glu) rs372046855
NM_000070.3(CAPN3):c.679G>C (p.Ala227Pro) rs1595822648
NM_000112.4(SLC26A2):c.1011TGT[5] (p.Val341dup) rs121908077
NM_000112.4(SLC26A2):c.1073C>T (p.Ser358Phe) rs768874273
NM_000231.3(SGCG):c.613_614delinsTT (p.Ala205Phe) rs1883002814
NM_000236.3(LIPC):c.686G>T (p.Gly229Val) rs2140922013
NM_000284.4(PDHA1):c.1103_1108dup (p.Tyr369_Ser370insPheTyr)
NM_000384.3(APOB):c.10098_10100del (p.Leu3367del) rs2103352265
NM_000384.3(APOB):c.9470G>C (p.Gly3157Ala) rs772429691
NM_000527.5(LDLR):c.-8C>A rs2147186383
NM_000527.5(LDLR):c.203G>T (p.Cys68Phe) rs2077229853
NM_000527.5(LDLR):c.616A>C (p.Ser206Arg) rs2077277985
NM_000925.4(PDHB):c.615G>A (p.Met205Ile)
NM_001013693.3(LDLRAD2):c.*1998A>T rs2152683273
NM_001013693.3(LDLRAD2):c.*2001C>G rs2152683279
NM_001032221.6(STXBP1):c.430G>T (p.Val144Phe) rs1211863124
NM_001040142.2(SCN2A):c.4461C>A (p.Asp1487Glu) rs1553462203
NM_001040142.2(SCN2A):c.4732T>G (p.Cys1578Gly) rs1701904705
NM_001040142.2(SCN2A):c.4832T>C (p.Leu1611Pro) rs1701999328
NM_001127644.2(GABRA1):c.406G>T (p.Ala136Ser) rs1754201918
NM_001165963.4(SCN1A):c.4007T>G (p.Val1336Gly) rs1691097432
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu) rs1573984236
NM_001203.3(BMPR1B):c.1118G>A (p.Gly373Asp) rs2149325883
NM_001303.4(COX10):c.1037C>T (p.Ser346Leu)
NM_001303.4(COX10):c.878C>T (p.Ala293Val)
NM_001323289.2(CDKL5):c.178G>C (p.Glu60Gln) rs1925262394
NM_001323289.2(CDKL5):c.422T>C (p.Leu141Pro) rs1925493091
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001330260.2(SCN8A):c.2248G>A (p.Val750Ile) rs1942594128
NM_001330260.2(SCN8A):c.4924T>C (p.Phe1642Leu) rs1938703650
NM_001371246.1(SCN2A):c.623T>C (p.Val208Ala) rs1697298069
NM_001377299.1(NDUFS2):c.245T>A (p.Leu82Gln)
NM_001377299.1(NDUFS2):c.412C>T (p.Arg138Trp) rs1665634865
NM_001457.4(FLNB):c.4229C>G (p.Pro1410Arg) rs2107204256
NM_001567.4(INPPL1):c.1963A>T (p.Ile655Phe) rs752247882
NM_001844.5(COL2A1):c.3950T>G (p.Met1317Arg) rs1555164561
NM_002181.4(IHH):c.1021G>A (p.Glu341Lys) rs2106307025
NM_002181.4(IHH):c.851C>T (p.Thr284Met) rs1257383778
NM_002496.4(NDUFS8):c.585G>A (p.Trp195Ter) rs2134419114
NM_002637.4(PHKA1):c.521C>G (p.Ala174Gly) rs2053946293
NM_003849.4(SUCLG1):c.665T>C (p.Leu222Ser)
NM_003995.4(NPR2):c.2411G>A (p.Arg804His) rs2132092435
NM_004279.3(PMPCB):c.355C>A (p.Leu119Met)
NM_004544.4(NDUFA10):c.557A>C (p.His186Pro)
NM_004975.4(KCNB1):c.1594A>G (p.Met532Val) rs1984228484
NM_005138.3(SCO2):c.202G>A (p.Gly68Arg)
NM_005138.3(SCO2):c.533C>T (p.Ala178Val)
NM_005138.3(SCO2):c.763C>T (p.Arg255Trp)
NM_005505.5(SCARB1):c.1033C>A (p.Pro345Thr) rs2135596186
NM_006586.5(CNPY3):c.362G>A (p.Arg121Gln) rs761023974
NM_013432.5(TONSL):c.994G>C (p.Glu332Gln) rs1401572179
NM_014694.4(ADAMTSL2):c.707C>T (p.Pro236Leu)
NM_014694.4(ADAMTSL2):c.725T>A (p.Ile242Asn) rs2131111768
NM_014714.4(IFT140):c.1052G>T (p.Trp351Leu) rs2141840176
NM_014780.5(CUL7):c.3902C>G (p.Pro1301Arg) rs766640818
NM_015378.4(VPS13D):c.8687C>T (p.Thr2896Met)
NM_020779.4(WDR35):c.2874G>T (p.Lys958Asn) rs1558328135
NM_024120.5(NDUFAF5):c.743A>C (p.Tyr248Ser)
NM_025243.4(SLC19A3):c.1253A>C (p.Gln418Pro)
NM_032380.5(GFM2):c.1124T>C (p.Leu375Pro)
NM_032380.5(GFM2):c.240T>G (p.Asp80Glu)
NM_052844.4(DYNC2I2):c.1150G>C (p.Ala384Pro) rs2132138875
NM_139058.3(ARX):c.1589C>G (p.Ser530Cys) rs2048669628
NM_152416.4(NDUFAF6):c.634G>A (p.Gly212Ser)
NM_152416.4(NDUFAF6):c.907C>T (p.Arg303Ter)

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