ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" and "likely risk allele"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (likely risk allele) minimum review status: Submission 2 (likely risk allele) method:
ClinVar version:

Total variants with conflicting interpretations: 10

HGVS dbSNP gnomAD frequency
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs) rs1194089098 0.00006
NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg) rs797045075 0.00001
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.626C>T (p.Thr209Met) rs1583599303
NM_000162.5(GCK):c.776C>T (p.Ala259Val) rs1554335132
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949

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