ClinVar Miner

List of variants reported as pathogenic by SNPedia

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_000048.4(ASL):c.524+2T>G rs869312976 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_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_000048.3(ASL):c.292delG rs869312987
NM_000048.4(ASL):c.1122dup (p.Tyr375fs) rs869312993
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter) rs869312994
NM_000048.4(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000048.4(ASL):c.257A>C (p.Glu86Ala) rs869312986
NM_000048.4(ASL):c.461T>C (p.Leu154Pro) rs869312988
NM_000048.4(ASL):c.575_580dup (p.Lys192_Arg193dup) rs869312989
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000048.4(ASL):c.762C>A (p.Ser254Arg) rs869312991
NM_000048.4(ASL):c.889C>T (p.Arg297Trp) rs869312992
NM_000157.4(GBA1):c.1294T>A (p.Trp432Arg) rs1557901552
NM_001330360.2(POLA1):c.1393-354A>G rs869312979
NM_014712.3(SETD1A):c.1272del (p.Tyr425fs) rs869312830
NM_014712.3(SETD1A):c.1938C>G (p.Tyr646Ter) rs770913157
NM_014712.3(SETD1A):c.2171dup (p.Ala725fs) rs869312832
NM_014712.3(SETD1A):c.2209C>T (p.Gln737Ter) rs869312831
NM_014712.3(SETD1A):c.518-2A>G rs869312829
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_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.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_177987.3(TUBB8):c.1088T>C (p.Met363Thr) rs869025611
NM_177987.3(TUBB8):c.1249G>A (p.Asp417Asn) rs869025272
NM_177987.3(TUBB8):c.527C>T (p.Ser176Leu) rs869025609
NM_177987.3(TUBB8):c.5G>A (p.Arg2Lys) rs869025273
NM_177987.3(TUBB8):c.686T>C (p.Val229Ala) rs869025271
NM_177987.3(TUBB8):c.785G>A (p.Arg262Gln) rs869025610
NM_177987.3(TUBB8):c.900G>A (p.Met300Ile) rs869025612
PALB2:c.2515-1G>T rs587776417

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