ClinVar Miner

List of variants reported for not provided by SNPedia

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_020533.3(MCOLN1):c.406-2A>G rs104886461 0.00009
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_032520.5(GNPTG):c.74C>A (p.Ala25Glu) rs137853826 0.00006
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638 0.00003
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_000527.5(LDLR):c.1356C>T (p.Cys452=) rs137853961 0.00001
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965 0.00001
NM_024312.5(GNPTAB):c.961A>G (p.Ser321Gly) rs137853824 0.00001
NM_024675.4(PALB2):c.156del (p.Glu53fs) rs587776406 0.00001
NM_024675.4(PALB2):c.2888del (p.Ser963fs) rs587776420 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile) rs587777892 0.00001
NM_000041.4(APOE):c.292del (p.Glu98fs) rs527236160
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000553.6(WRN):c.3139-1G>C rs113993961
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr) rs154774636
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) rs154774633
NM_017882.3(CLN6):c.231C>G (p.Asn77Lys) rs154774641
NM_017882.3(CLN6):c.712T>A (p.Phe238Ile) rs154774637
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_024312.5(GNPTAB):c.1875C>G (p.Phe625Leu) rs137853823
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs) rs587776410
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter) rs587776411
NM_024675.4(PALB2):c.1431del (p.Ser478fs) rs587776412
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter) rs587776413
NM_024675.4(PALB2):c.1591_1600del (p.Pro532fs) rs587776414
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter) rs587776415
NM_024675.4(PALB2):c.2787_2788del (p.Tyr929_Asn930delinsTer) rs587776418
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) rs180177126
NM_024675.4(PALB2):c.3026del (p.Pro1009fs) rs180177131
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs) rs587776424
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs) rs587776425
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs) rs587776426
NM_024675.4(PALB2):c.3497_3498del (p.Gly1166fs) rs587776427
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter) rs587776407
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer) rs587776408
NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer) rs587776409
NM_032485.6(MCM8):c.446C>G (p.Pro149Arg) rs606231343
NM_032520.5(GNPTG):c.688C>G (p.Leu230Val) rs137853827
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.11170G>T (p.Glu3724Ter) rs180177372
NM_152564.5(VPS13B):c.11489_11490del (p.Tyr3830fs) rs180177373
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_152564.5(VPS13B):c.2934+1_2934+2del rs180177358
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter) rs180177359
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) rs180177360
NM_152564.5(VPS13B):c.4880C>G (p.Ser1627Ter) rs180177361
NM_152564.5(VPS13B):c.5140_5157del (p.Ser1714_Gln1719del) rs180177362
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) rs180177363
NM_152564.5(VPS13B):c.5386dup (p.Arg1796fs) rs180177364
NM_152564.5(VPS13B):c.7078G>T (p.Glu2360Ter) rs180177368
NM_152564.5(VPS13B):c.7247_7247+1delinsATGGAGC rs180177367
NM_152564.5(VPS13B):c.8217C>A (p.Cys2739Ter) rs180177369
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu) rs180177370
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
PALB2:c.2515-1G>T rs587776417

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