ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Athena Diagnostics Inc and "pathogenic" from any submitter

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 79
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HGVS dbSNP gnomAD frequency
UGT1A1*6 rs4148323 0.00891
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys) rs200151282 0.00006
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys) rs746164064 0.00004
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644 0.00004
NM_000454.5(SOD1):c.289G>A (p.Asp97Asn) rs121912459 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser) rs759806045 0.00002
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu) rs762652935 0.00001
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399 0.00001
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu) rs758210285 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln) rs137852956 0.00001
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) rs1290868034 0.00001
NM_000021.4(PSEN1):c.799C>G (p.Pro267Ala) rs63751229
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg) rs1554334613
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.883G>A (p.Gly295Ser) rs1554334905
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu) rs1602349280
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000334.4(SCN4A):c.5104GAG[1] (p.Glu1703del) rs1464481652
NM_000344.4(SMN1):c.419A>T (p.Asp140Val) rs1554081968
NM_000444.6(PHEX):c.1768+5G>A rs1057524608
NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup) rs931041761
NM_000497.4(CYP11B1):c.1398+5G>C rs1563867837
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu) rs121913589
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000545.8(HNF1A):c.526+5_526+8del rs2135833007
NM_000545.8(HNF1A):c.608G>T (p.Arg203Leu) rs587780357
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001127222.2(CACNA1A):c.4250G>A (p.Arg1417Gln) rs1568471977
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg) rs1168625480
NM_001267550.2(TTN):c.38660del (p.Lys12887fs) rs761617432
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_002693.3(POLG):c.3294T>G (p.Asn1098Lys) rs374224714
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met) rs1064794981
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu) rs1574892457
NM_004006.3(DMD):c.3603+2_3603+3insTA rs1603633860
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs) rs1603216806
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met) rs1057522195
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) rs1554668805
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_024009.3(GJB3):c.196_198del (p.Asp66del) rs786200895
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.931C>T (p.Arg311Cys) rs193922480
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
Single allele

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