ClinVar Miner

List of variants reported as likely pathogenic by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 167
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00029
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_000501.4(ELN):c.1150+1G>A rs727503030 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) rs199472958 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000384.3(APOB):c.10519C>T (p.Arg3507Trp) rs754264874 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000237.3(LPL):c.929G>A (p.Cys310Tyr) rs1409123950 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln) rs199473623 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000527.5(LDLR):c.1061-1G>C rs879254774 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) rs875989911 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln) rs772978260 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000548.5(TSC2):c.4570-1G>A rs777985056 0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) rs772393451 0.00001
NM_007194.4(CHEK2):c.319+1G>A rs765080766 0.00001
NM_007294.4(BRCA1):c.442-1G>T rs1351019392 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter) rs1565607653
NM_000051.4(ATM):c.8988-2A>G rs786202087
NM_000059.4(BRCA2):c.6842-2A>G rs1555285132
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys) rs1559061954
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000138.5(FBN1):c.1462T>G (p.Cys488Gly) rs1555400373
NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr) rs1597633163
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp) rs1163486953
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val) rs397515806
NM_000179.3(MSH6):c.3922_3938dup (p.Gln1314fs) rs1670123011
NM_000218.3(KCNQ1):c.425del (p.Leu142fs) rs794728566
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.4(KCNH2):c.245T>C (p.Ile82Thr) rs1563189895
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.34_46del (p.Leu11_Asp12insTer) rs2080891193
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000256.3(MYBPC3):c.1168del (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.905+1G>T rs767698543
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000335.5(SCN5A):c.2335del (p.Gln779fs) rs2061687300
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) rs137854607
NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter) rs2032692897
NM_000527.4(LDLR):c.-152C>T
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1214_1217dup (p.His407fs) rs2077407494
NM_000527.5(LDLR):c.1284del (p.Asn428fs) rs2077409930
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg) rs773566855
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro) rs879254968
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.2045T>G (p.Leu682Arg) rs879255119
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.5(LDLR):c.227_233del (p.Gly76fs) rs2147216927
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.482T>A (p.Ile161Asn) rs754933794
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.695-1G>A rs879254652
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000535.7(PMS2):c.457del (p.Arg153fs) rs1785207289
NM_000535.7(PMS2):c.873del (p.Phe291fs) rs1261282733
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met) rs746971794
NM_000546.6(TP53):c.272G>A (p.Trp91Ter) rs2073465664
NM_000546.6(TP53):c.560-1G>C rs1202793339
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000548.5(TSC2):c.1866_1870dup (p.Asp624fs) rs2088388374
NM_000551.4(VHL):c.551T>C (p.Leu184Pro) rs1064793878
NM_000702.4(ATP1A2):c.2809del (p.Arg937fs) rs1651974671
NM_000937.5(POLR2A):c.1314_1319del (p.His439_Leu440del) rs2070546216
NM_000937.5(POLR2A):c.323G>A (p.Arg108His) rs762784138
NM_000937.5(POLR2A):c.3275C>T (p.Ala1092Val) rs2070664416
NM_000937.5(POLR2A):c.3281C>T (p.Ser1094Phe) rs775858617
NM_000937.5(POLR2A):c.3407C>T (p.Thr1136Ile) rs2070665204
NM_000937.5(POLR2A):c.418C>T (p.Arg140Trp) rs1329988533
NM_000937.5(POLR2A):c.5440_5441del (p.Gln1814fs) rs778071890
NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg) rs1388837601
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter) rs868450405
NM_001083603.3(PTCH1):c.93C>G (p.Tyr31Ter) rs756069384
NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter) rs1212204584
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs) rs1114167510
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) rs1375081885
NM_001943.5(DSG2):c.2817del (p.Tyr940fs) rs1567934773
NM_001943.5(DSG2):c.2857del (p.Leu953fs) rs2073308127
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_002734.5(PRKAR1A):c.565_566insC (p.Glu189fs) rs2143321666
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter) rs1672294906
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro) rs1567311288
NM_003361.4(UMOD):c.774G>C (p.Trp258Cys) rs1567309582
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004168.4(SDHA):c.944dup (p.Gly316fs) rs1579402180
NM_004304.5(ALK):c.4298_4299del (p.Glu1433fs) rs1668950344
NM_004329.3(BMPR1A):c.1533del (p.Arg511fs) rs1843700160
NM_005188.4(CBL):c.1495C>T (p.Arg499Ter) rs778927765
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_007194.4(CHEK2):c.468C>G (p.Tyr156Ter) rs1555926996
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter) rs886039609
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_020975.6(RET):c.3222dup (p.Val1075fs) rs1838374810
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024426.6(WT1):c.1142del (p.Pro381fs) rs1564972993
NM_024675.4(PALB2):c.228_229del (p.Ile76fs) rs1555461870
NM_024675.4(PALB2):c.2515-1G>A rs587776417
NM_024675.4(PALB2):c.2748+1G>T rs753153576
NM_024675.4(PALB2):c.2974_2975del (p.Met992fs) rs1966798806
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro) rs61661343
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) rs794728683

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.