ClinVar Miner

Variants in gene PGM1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val) rs145972303 0.00026
NM_002633.3(PGM1):c.420A>G (p.Pro140=) rs141007881 0.00021
NM_002633.3(PGM1):c.1600-3C>T rs375450688 0.00016
NM_002633.3(PGM1):c.900T>C (p.His300=) rs145807501 0.00016
NM_002633.3(PGM1):c.1028+11C>A rs541069522 0.00011
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907 0.00010
NM_002633.3(PGM1):c.442T>G (p.Phe148Val) rs755467080 0.00006
NM_002633.3(PGM1):c.1144+10A>G rs886046482 0.00003
NM_002633.3(PGM1):c.327T>C (p.Ile109=) rs770271653 0.00001
NM_002633.3(PGM1):c.1029-8C>G rs752232600
NM_002633.3(PGM1):c.1065C>A (p.Thr355=) rs773677629
NM_002633.3(PGM1):c.741G>A (p.Ser247=) rs142222746

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