ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Athena Diagnostics Inc and "likely pathogenic" from Invitae

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: 35
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HGVS dbSNP gnomAD frequency
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946 0.00006
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu) rs149737658 0.00004
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser) rs373386030 0.00004
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His) rs45627438 0.00003
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) rs778585043 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680 0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810 0.00001
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys) rs1174593640 0.00001
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp) rs1157851269 0.00001
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp) rs1041531529 0.00001
NM_033109.5(PNPT1):c.337C>T (p.Pro113Ser) rs930190521 0.00001
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1247A>C (p.His416Pro) rs1583591303
NM_000162.5(GCK):c.364C>G (p.Leu122Val) rs1554335616
NM_000162.5(GCK):c.595G>A (p.Val199Met) rs1554335417
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1]) rs116840823
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.418T>C (p.Trp140Arg) rs1555564040
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000444.6(PHEX):c.1960T>A (p.Phe654Ile) rs1935508894
NM_000478.6(ALPL):c.643A>G (p.Ile215Val)
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) rs1553259760
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg) rs1969830618
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_004092.4(ECHS1):c.412G>A (p.Ala138Thr)
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_024411.5(PDYN):c.658_659del (p.Trp220fs) rs748307861
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly) rs2109139343
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127

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