ClinVar Miner

List of variants reported by Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) rs375168720 0.00006
NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln) rs1275962600 0.00001
NM_006946.4(SPTBN2):c.2996G>A (p.Arg999His) rs769417045 0.00001
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter) rs769212398 0.00001
NM_015214.3(DDHD2):c.292C>T (p.Arg98Trp) rs372220151 0.00001
NM_024570.4(RNASEH2B):c.253C>T (p.Leu85Phe) rs1262454987 0.00001
NM_025137.4(SPG11):c.6205+1G>A rs753650233 0.00001
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro) rs1569540688
NM_000051.4(ATM):c.1914dup (p.Asp639fs) rs2080292910
NM_000051.4(ATM):c.2922-1G>A rs1555084931
NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer) rs1555091431
NM_000051.4(ATM):c.8227_8228del (p.Thr2743fs) rs2086795898
NM_000314.8(PTEN):c.209+1_209+2dup rs1564826836
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs) rs118203597
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001032221.6(STXBP1):c.1295T>A (p.Ile432Lys) rs1841768122
NM_001040142.2(SCN2A):c.4989del (p.Ile1663fs) rs1702009872
NM_001040142.2(SCN2A):c.785T>C (p.Phe262Ser) rs1697364805
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001127222.2(CACNA1A):c.4089+2T>G rs1600198365
NM_001127644.2(GABRA1):c.763A>T (p.Ile255Phe) rs1755061747
NM_001164508.2(NEB):c.20157+2T>A rs1553717306
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly) rs1689278062
NM_001170629.2(CHD8):c.4574dup (p.Ser1526fs) rs1887974151
NM_001278116.2(L1CAM):c.139_140del (p.Val47fs) rs2064782292
NM_001288705.3(CSF1R):c.1772G>A (p.Gly591Glu) rs1757528753
NM_001349253.2(SCN11A):c.3917T>A (p.Val1306Asp) rs2065056793
NM_001378452.1(ITPR1):c.7766T>C (p.Val2589Ala) rs2049205080
NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp) rs1877801384
NM_002055.5(GFAP):c.1125C>G (p.Asn375Lys) rs1567773470
NM_002180.3(IGHMBP2):c.1139C>T (p.Ala380Val) rs1859182151
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_003482.4(KMT2D):c.13293del (p.Lys4432fs) rs1942904526
NM_003907.3(EIF2B5):c.1010A>G (p.His337Arg) rs907041830
NM_003907.3(EIF2B5):c.1030C>T (p.Arg344Ter) rs1560108537
NM_004006.3(DMD):c.3982C>T (p.Gln1328Ter) rs745640786
NM_004006.3(DMD):c.4519-2A>C rs2097958830
NM_005249.5(FOXG1):c.1011_1015dup (p.Met339fs) rs1881815891
NM_005257.6(GATA6):c.23G>A (p.Trp8Ter) rs2033033528
NM_005614.4(RHEB):c.119A>T (p.Glu40Val) rs1554438588
NM_005861.4(STUB1):c.760C>G (p.Arg254Gly) rs770730338
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_007055.4(POLR3A):c.2471A>C (p.His824Pro) rs1564617866
NM_014363.6(SACS):c.2829dup (p.Leu944fs) rs1869162207
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter) rs770901638
NM_014363.6(SACS):c.5492del (p.Lys1831fs) rs1868862742
NM_014946.4(SPAST):c.1322-2A>G rs1553318208
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del) rs774123592
NM_015046.7(SETX):c.1856_1863del (p.Ser618_Tyr619insTer) rs1847100683
NM_015046.7(SETX):c.7154T>G (p.Val2385Gly) rs1842914440
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter) rs2096866595
NM_015915.5(ATL1):c.1472G>A (p.Trp491Ter) rs2039543082
NM_020435.4(GJC2):c.49dup (p.His17fs) rs2034704908
NM_020435.4(GJC2):c.62C>T (p.Thr21Ile) rs2034705112
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs) rs312262784
NM_031448.6(C19orf12):c.240_241dup (p.Pro81fs) rs1972184295
NM_031844.3(HNRNPU):c.622C>T (p.Gln208Ter) rs1573337552
NM_032193.4(RNASEH2C):c.*78A>G rs1857332269
NM_032193.4(RNASEH2C):c.450G>T (p.Trp150Cys) rs1064793942
NM_130837.3(OPA1):c.1149+3A>T rs1733207545
NM_130837.3(OPA1):c.267G>T (p.Trp89Cys) rs1728788655
NM_152722.5(HEPACAM):c.359A>G (p.Tyr120Cys) rs1565339091
NM_172107.4(KCNQ2):c.782T>G (p.Phe261Cys) rs796052631
NM_182961.4(SYNE1):c.12605del (p.Lys4202fs) rs2096322248
NM_182961.4(SYNE1):c.13325dup (p.Gln4443fs) rs1064794555
NM_182961.4(SYNE1):c.1980G>A (p.Met660Ile) rs2098746138
NM_182961.4(SYNE1):c.20527del (p.Leu6843fs) rs2083582255

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