ClinVar Miner

List of variants reported for not provided by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_030653.4(DDX11):c.1763-1G>C rs148856317 0.00024
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr) rs267608626 0.00009
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_014795.4(ZEB2):c.2870G>A (p.Arg957Gln) rs371509136 0.00003
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373 0.00001
NM_001061.7(TBXAS1):c.90-1G>C rs765686939 0.00001
NM_001957.4(EDNRA):c.1142A>C (p.Gln381Pro) rs1219791712 0.00001
NM_002206.3(ITGA7):c.2278G>A (p.Val760Ile) rs773004449 0.00001
NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp) rs767506087 0.00001
NM_144672.4(OTOA):c.755G>A (p.Trp252Ter) rs879255431 0.00001
NC_000002.12:g.(?_144388714)_(144520303_?)del
NC_000023.11:g.(?_18625128)_(18628587_?)del
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter) rs864309551
NM_000352.6(ABCC8):c.2695-2A>T rs863225278
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.4456_4457del (p.Arg1486fs) rs863225279
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys) rs771075821
NM_000834.5(GRIN2B):c.2430C>A (p.Ser810Arg) rs864309560
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001110792.2(MECP2):c.*9G>T rs144008995
NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro) rs1557137884
NM_001110792.2(MECP2):c.275C>G (p.Ser92Cys) rs1332969540
NM_001110792.2(MECP2):c.319_322del (p.Tyr107fs) rs1557137776
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.563C>A (p.Pro188His) rs61749701
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001110792.2(MECP2):c.784dup (p.Arg262fs) rs61749752
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.937C>T (p.Leu313Phe) rs1557136251
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) rs796052973
NM_001197104.2(KMT2A):c.6329C>G (p.Ser2110Ter) rs864309569
NM_001253852.3(AP4B1):c.114-2A>C rs879255396
NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs) rs879255397
NM_001256789.3(CACNA1F):c.4690G>T (p.Glu1564Ter) rs879255389
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg) rs121908332
NM_001323289.2(CDKL5):c.1897C>T (p.Gln633Ter) rs863225065
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001374828.1(ARID1B):c.3704G>A (p.Gly1235Asp) rs864309615
NM_001904.4(CTNNB1):c.1867C>T (p.Gln623Ter) rs864309577
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His) rs774455945
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004560.4(ROR2):c.355C>T (p.Arg119Ter) rs121909087
NM_004992.3(MECP2):c.[1155_1200del;987_988del]
NM_005859.5(PURA):c.509_515del (p.Ile170fs) rs879255390
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_014795.4(ZEB2):c.2365del (p.Ser789fs) rs786203992
NM_014795.4(ZEB2):c.2398dup (p.Ser800fs) rs786203990
NM_014795.4(ZEB2):c.3544del (p.Glu1182fs) rs786203991
NM_014795.4(ZEB2):c.808-1G>T rs786203993
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) rs587784571
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015335.5(MED13L):c.5444del (p.Thr1815fs) rs879255407
NM_015340.4(LARS2):c.2263C>T (p.Gln755Ter) rs879255408
NM_016239.4(MYO15A):c.2984_2991del (p.Glu995fs) rs864309607
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.3964del (p.Leu1322fs) rs879255410
NM_018684.4(ZC4H2):c.608G>T (p.Cys203Phe) rs879255362
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_130838.2(UBE3A):c.[255_259del;269del]
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer) rs863225068
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) rs863225070
NM_139058.3(ARX):c.216C>A (p.Ser72Arg) rs587783195
NM_139058.3(ARX):c.260G>C (p.Arg87Pro) rs786203995
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) rs398124510
NM_152296.5(ATP1A3):c.958G>A (p.Ala320Thr) rs879255368
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) rs864309572
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_201384.3(PLEC):c.13297A>T (p.Lys4433Ter) rs864309634
NM_201384.3(PLEC):c.5932G>T (p.Glu1978Ter) rs864309635

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