ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from UCLA Clinical Genomics Center, UCLA and "pathogenic" from any submitter

Minimum review status of the submission from UCLA Clinical Genomics Center, UCLA: Collection method of the submission from UCLA Clinical Genomics Center, UCLA:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 33
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg) rs772871471 0.00002
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro) rs751161742 0.00002
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) rs537043237 0.00002
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_003201.3(TFAM):c.533C>T (p.Pro178Leu) rs757075712 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631 0.00001
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter) rs587783390 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe) rs797046074
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter) rs863224886
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter) rs146880270
NM_006009.4(TUBA1A):c.352G>A (p.Val118Met) rs863224938
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) rs767399782
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_022455.5(NSD1):c.5304-1G>C rs863224905
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg) rs143697995
NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys) rs376003468

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