ClinVar Miner

Variants in gene GNPTAB with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_024312.5(GNPTAB):c.1612+28T>C rs74389509 0.02246
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=) rs11111008 0.01428
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569 0.01207
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=) rs78347057 0.01017
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met) rs34083392 0.00720
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=) rs61745799 0.00448
NM_024312.5(GNPTAB):c.323+36A>G rs182910639 0.00070
NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr) rs201829728 0.00018
NM_024312.5(GNPTAB):c.2019A>G (p.Lys673=) rs551905649 0.00005
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=) rs139215843 0.00001
NM_024312.5(GNPTAB):c.-62GGC[7] rs76300806
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
NM_024312.5(GNPTAB):c.323+11dup rs546617430
NM_024312.5(GNPTAB):c.771+7A>C rs375495503

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