ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Eurofins NTD LLC (GA) and "pathogenic" from Mayo Clinic Laboratories, Mayo Clinic

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583 0.00017
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_002834.5(PTPN11):c.213T>G (p.Phe71Leu) rs1555267558
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
Single allele

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