ClinVar Miner

List of variants in gene GNPTAB reported by Invitae

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Total variants: 19
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HGVS dbSNP
NC_000012.11:g.(?_102224317)_(102224473_?)dup
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278
NM_024312.5(GNPTAB):c.1124G>A (p.Arg375Gln)
NM_024312.5(GNPTAB):c.117+1G>T
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026
NM_024312.5(GNPTAB):c.153_156TTTG[1] (p.Phe53fs) rs794727302
NM_024312.5(GNPTAB):c.1570A>G (p.Asn524Asp) rs749452608
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=) rs61745799
NM_024312.5(GNPTAB):c.1885A>G (p.Ile629Val)
NM_024312.5(GNPTAB):c.203+2T>C
NM_024312.5(GNPTAB):c.2455del (p.Glu819fs)
NM_024312.5(GNPTAB):c.2715+1G>A rs281865031
NM_024312.5(GNPTAB):c.272A>G (p.Lys91Arg)
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341
NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024312.5(GNPTAB):c.612_615ACAG[1] (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.99del (p.Ala34fs) rs1408113895

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