ClinVar Miner

List of variants reported as likely pathogenic by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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ClinVar version:
Total variants: 81
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HGVS dbSNP
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000059.3(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132
NM_000113.2(TOR1A):c.907_909delGAG (p.Glu303del) rs80358233
NM_000284.4(PDHA1):c.461A>G (p.His154Arg) rs1131692230
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321
NM_000426.3(LAMA2):c.715C>T (p.Arg239Cys) rs145465528
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000834.4(GRIN2B):c.1858G>A (p.Val620Met) rs796052571
NM_000834.4(GRIN2B):c.2045G>A (p.Arg682His) rs886041095
NM_001003694.2(BRPF1):c.1755_1756delinsT (p.Lys585fs) rs1559662068
NM_001003694.2(BRPF1):c.3456_3458CTT[1] (p.Phe1154del) rs1553697341
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001029896.2(WDR45):c.973+1G>A rs869312661
NM_001079846.1(CREBBP):c.5123G>T (p.Gly1708Val) rs869312714
NM_001079846.1(CREBBP):c.6210C>A (p.Tyr2070Ter) rs199821421
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) rs121908216
NM_001127392.3(MYRF):c.1200C>A (p.Asn400Lys) rs1565295267
NM_001130004.1(ACTN1):c.2201A>G (p.Gln734Arg) rs1555343284
NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly) rs869312681
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001161352.2(KCNMA1):c.2846A>G (p.Asn949Ser) rs1565091862
NM_001256627.2(BRSK2):c.1530_1531AG[1] (p.Glu511fs) rs1135402760
NM_001256627.2(BRSK2):c.635G>A (p.Gly212Glu) rs1554904772
NM_001303052.2(MYT1L):c.1559T>C (p.Leu520Pro) rs1057519560
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001943.5(DSG2):c.3055_3056AG[2] (p.Glu1020fs) rs397516706
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn) rs869312676
NM_002641.3(PIGA):c.395C>G (p.Ser132Cys) rs1060499625
NM_003070.5(SMARCA2):c.3562G>A (p.Ala1188Thr) rs281875196
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys) rs1569481124
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673
NM_005188.3(CBL):c.1096-4_1096-1del rs397517077
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys) rs879255530
NM_005445.3(SMC3):c.283G>A (p.Glu95Lys) rs869312672
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_005859.5(PURA):c.710C>T (p.Ser237Phe) rs886039899
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006516.3(SLC2A1):c.938C>T (p.Ser313Phe) rs794727870
NM_006516.3(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006593.4(TBR1):c.1581_1587GGCTGCA[3] (p.Thr532fs) rs869312704
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_014191.4(SCN8A):c.5276A>G (p.Asn1759Ser) rs869312690
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp) rs1057519946
NM_014619.4(GRIK4):c.1856G>A (p.Arg619His) rs534517447
NM_014619.4(GRIK4):c.2713_2727delinsGCT (p.Leu905_Glu908del) rs869312699
NM_014795.4(ZEB2):c.3164A>G (p.Tyr1055Cys) rs1135402759
NM_014975.3(MAST1):c.278C>T (p.Ser93Leu) rs878853165
NM_015100.4(POGZ):c.1748A>G (p.His583Arg) rs1131692270
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter) rs1057519563
NM_015213.4(DENND5A):c.3629G>A (p.Arg1210Gln) rs1057519564
NM_015570.4(AUTS2):c.1486dup (p.Gln496fs) rs869312878
NM_015678.4(NBEA):c.2836C>T (p.His946Tyr) rs869312667
NM_015678.4(NBEA):c.6637C>T (p.Arg2213Ter) rs878853169
NM_015836.3(WARS2):c.715C>T (p.Arg239Ter) rs757600616
NM_015836.3(WARS2):c.791A>G (p.Tyr264Cys) rs139194636
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly) rs142217951
NM_017635.5(KMT5B):c.2497G>T (p.Glu833Ter) rs878853164
NM_018486.3(HDAC8):c.737+1G>A rs869312660
NM_019109.4(ALG1):c.1187+3A>G rs369160589
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378
NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg) rs1554817910
NM_021120.4(DLG3):c.1721G>A (p.Arg574Gln) rs149595793
NM_022552.4(DNMT3A):c.895A>C (p.Lys299Gln) rs766858016
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys) rs886041093
NM_025160.6(WDR26):c.1225T>G (p.Trp409Gly) rs1553354956
NM_025160.6(WDR26):c.1237G>A (p.Asp413Asn) rs1553354952
NM_031263.4(HNRNPK):c.646-1G>A rs1564062144
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter) rs869312701
NM_032504.1(UNC80):c.1806G>C (p.Gln602His) rs200473652
NM_032504.1(UNC80):c.6607G>A (p.Asp2203Asn) rs886041094
NM_032634.4(PIGO):c.1392_1393insA (p.Cys465fs) rs1563997929
NM_153223.3(CEP120):c.2323C>T (p.Gln775Ter) rs759125480
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_170606.3(KMT2C):c.7613dup (p.Gln2539fs) rs1554496813
NM_205768.2(ZBTB18):c.1493A>C (p.His498Pro) rs1553270640
NM_205768.2(ZBTB18):c.160T>C (p.Cys54Arg) rs869312689

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