ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Athena Diagnostics Inc and "likely pathogenic" from CeGaT Center for Human Genetics Tuebingen

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: 23
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys) rs200151282 0.00006
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_014946.4(SPAST):c.1783A>G (p.Ser595Gly) rs1553321245 0.00001
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) rs2116373070
NM_000388.4(CASR):c.101T>C (p.Leu34Pro) rs1559955362
NM_001040142.2(SCN2A):c.4534C>T (p.Pro1512Ser) rs1558879940
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001540.5(HSPB1):c.438dup (p.Gly147fs) rs747325717
NM_002739.5(PRKCG):c.1764+1G>A rs1406338491
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_018319.4(TDP1):c.341_342del (p.Lys114fs) rs769278668
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs) rs760886419

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