ClinVar Miner

List of variants reported for not specified by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_014801.4(PCNX2):c.3526C>T (p.His1176Tyr) rs188041996 0.00224
NM_001332.4(CTNND2):c.671C>T (p.Pro224Leu) rs769623284 0.00032
NM_001040192.3(DNAJC28):c.502G>T (p.Glu168Ter) rs147358478 0.00008
NM_005371.6(METTL1):c.326G>A (p.Arg109Gln) rs768213849 0.00005
NM_024870.4(PREX2):c.428G>A (p.Arg143Gln) rs745857499 0.00005
NM_006828.4(ASCC3):c.2763del (p.Leu922fs) rs1462303140 0.00004
NM_006828.4(ASCC3):c.281C>T (p.Ala94Val) rs143119831 0.00004
NM_001256627.2(BRSK2):c.1861C>T (p.Arg621Cys) rs1198947199 0.00001
NM_001282874.2(SMARCA1):c.2161G>A (p.Asp721Asn) rs766401027 0.00001
NM_001666.5(ARHGAP4):c.926T>G (p.Val309Gly) rs1293728849 0.00001
NM_005371.6(METTL1):c.370C>T (p.Arg124Cys) rs755626987 0.00001
NM_001005273.3(CHD3):c.4280G>A (p.Trp1427Ter) rs1555613750
NM_001007157.2(PHF14):c.964T>G (p.Cys322Gly) rs2128310303
NM_001037442.4(RUFY3):c.764dup (p.Gln256fs) rs869312879
NM_001047160.3(NET1):c.839A>G (p.Lys280Arg) rs869312683
NM_001105244.2(PTPRM):c.1749A>G (p.Ile583Met) rs2090405367
NM_001143854.2(RPH3A):c.1349C>G (p.Thr450Ser) rs869312710
NM_001256627.2(BRSK2):c.1532_1533del (p.Glu511fs) rs1135402760
NM_001256627.2(BRSK2):c.530+1G>A rs1554904159
NM_001256627.2(BRSK2):c.635G>A (p.Gly212Glu) rs1554904772
NM_001332.4(CTNND2):c.762C>G (p.Tyr254Ter) rs1131692267
NM_001385012.1(NBEA):c.2836C>T (p.His946Tyr) rs869312667
NM_001385012.1(NBEA):c.6637C>T (p.Arg2213Ter) rs878853169
NM_001386888.1(AFDN):c.2557_2559delinsTGA (p.Ile853Ter) rs1057519562
NM_001393769.1(MED12L):c.6097C>T (p.Gln2033Ter) rs1553815325
NM_001394062.1(MACF1):c.11650C>T (p.Gln3884Ter) rs1553300826
NM_002577.4(PAK2):c.1205C>T (p.Thr402Ile) rs2108772943
NM_002807.4(PSMD1):c.418C>T (p.Arg140Ter) rs1693924262
NM_003812.4(ADAM23):c.2268del (p.Cys757fs) rs2105852296
NM_003870.4(IQGAP1):c.3493A>G (p.Lys1165Glu) rs886039901
NM_003898.4(SYNJ2):c.2557T>C (p.Ser853Pro) rs869312665
NM_004850.5(ROCK2):c.2140C>T (p.Arg714Ter) rs869312716
NM_005121.3(MED13):c.4198C>T (p.Arg1400Ter) rs773685207
NM_005402.4(RALA):c.526C>T (p.Arg176Ter) rs1204820978
NM_006618.5(KDM5B):c.3727C>T (p.Arg1243Ter) rs869312703
NM_007279.3(U2AF2):c.1256G>A (p.Arg419Gln) rs1984754253
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del) rs2148715376
NM_012199.5(AGO1):c.2342C>T (p.Thr781Met) rs2148725999
NM_013450.4(BAZ2B):c.242C>G (p.Ser81Ter) rs767318278
NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys) rs869312709
NM_014801.4(PCNX2):c.4125_4126del (p.Asp1377fs) rs797046137
NM_014991.6(WDFY3):c.8467C>T (p.Arg2823Trp) rs1131692269
NM_014991.6(WDFY3):c.8864_8867dup (p.Phe2957fs) rs878853167
NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg) rs1554817910
NM_020706.2(SCAF4):c.159G>T (p.Lys53Asn) rs763344051
NM_021224.6(ZNF462):c.5680T>G (p.Cys1894Gly) rs869312691
NM_024870.4(PREX2):c.1579C>A (p.Arg527Ser) rs199776134
NM_032776.3(JMJD1C):c.6410A>T (p.Glu2137Val) rs369068631
NM_033225.6(CSMD1):c.1642A>G (p.Thr548Ala) rs768680532
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_175854.8(PAN3):c.85del (p.Ala29fs) rs2137882227
NM_181349.3(SMURF1):c.721G>A (p.Glu241Lys) rs1795770782

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