ClinVar Miner

List of variants in gene GNPTAB reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 11
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HGVS dbSNP
NM_024312.4(GNPTAB):c.1612+28T>C rs74389509
NM_024312.4(GNPTAB):c.18G>A (p.Leu6=) rs4764655
NM_024312.4(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468
NM_024312.4(GNPTAB):c.1931_1932delCAinsTG (p.Thr644Met) rs386765812
NM_024312.4(GNPTAB):c.1932A>G (p.Thr644=) rs10778148
NM_024312.4(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569
NM_024312.4(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.4(GNPTAB):c.3135+5T>C rs759935
NM_024312.4(GNPTAB):c.323+36A>G rs182910639
NM_024312.4(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825
NM_024312.4(GNPTAB):c.3602+8C>A rs79493678

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