ClinVar Miner

List of variants in gene GNPTG reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_032520.5(GNPTG):c.741+5C>T rs201263537 0.00183
NM_032520.5(GNPTG):c.702T>C (p.Pro234=) rs532275192 0.00044
NM_032520.5(GNPTG):c.525A>C (p.Leu175=) rs144136497 0.00043
NM_032520.5(GNPTG):c.741+6G>A rs371060844 0.00043
NM_032520.5(GNPTG):c.857C>T (p.Thr286Met) rs193302860 0.00043
NM_032520.5(GNPTG):c.264C>T (p.Asn88=) rs145313679 0.00034
NM_032520.5(GNPTG):c.837G>A (p.Leu279=) rs61739427 0.00013
NM_032520.5(GNPTG):c.510C>T (p.His170=) rs202240106 0.00011
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln) rs561640998 0.00010
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu) rs202080062 0.00009
NM_032520.5(GNPTG):c.489C>T (p.Phe163=) rs370857842 0.00008
NM_032520.5(GNPTG):c.394C>T (p.Arg132Trp) rs200741370 0.00007
NM_032520.5(GNPTG):c.548C>T (p.Ala183Val) rs759248626 0.00006
NM_032520.5(GNPTG):c.412-14C>T rs528538033 0.00004
NM_032520.5(GNPTG):c.234-8G>T rs369333639 0.00003
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
NM_032520.5(GNPTG):c.*34G>A rs775046997 0.00001
NM_032520.5(GNPTG):c.*62G>A rs2034969990 0.00001
NM_032520.5(GNPTG):c.160G>A (p.Asp54Asn) rs901250980 0.00001
NM_032520.5(GNPTG):c.297C>T (p.Asn99=) rs201045559 0.00001
NM_032520.5(GNPTG):c.838G>A (p.Glu280Lys) rs756430172 0.00001
NM_032520.5(GNPTG):c.*107ACAAA[1] rs886051685
NM_032520.5(GNPTG):c.479C>A (p.Ala160Glu) rs374470431
NM_032520.5(GNPTG):c.562T>C (p.Trp188Arg) rs1596615005
NM_032520.5(GNPTG):c.740A>G (p.Lys247Arg) rs747594923
NM_032520.5(GNPTG):c.781G>A (p.Gly261Ser) rs371200622
NM_032520.5(GNPTG):c.798C>T (p.His266=) rs375787769
NM_032520.5(GNPTG):c.835T>G (p.Leu279Val) rs886051684

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