ClinVar Miner

List of variants in gene GNPTAB reported as likely pathogenic by Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics

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Total variants: 20
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HGVS dbSNP
NM_024312.4(GNPTAB):c.3449delT (p.Leu1150Argfs) rs1060499684
NM_024312.5(GNPTAB):c.1021_1023del (p.Pro341del) rs1060499679
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro) rs112543062
NM_024312.5(GNPTAB):c.1408+1G>T rs1060499680
NM_024312.5(GNPTAB):c.1600G>A (p.Asp534Asn) rs750240374
NM_024312.5(GNPTAB):c.1613-25del rs546802775
NM_024312.5(GNPTAB):c.2369_2370del (p.Phe790fs) rs1060499685
NM_024312.5(GNPTAB):c.2545_2549GAAAA[1] (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.2545_2549GAAAA[3] (p.Ile852fs) rs281864996
NM_024312.5(GNPTAB):c.2614del (p.Val872fs) rs1060499681
NM_024312.5(GNPTAB):c.2675dup (p.Leu892fs) rs1555269488
NM_024312.5(GNPTAB):c.2947_2954dup (p.Arg986fs) rs1555269154
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys) rs769587233
NM_024312.5(GNPTAB):c.3250-10_3335+112dup rs1555268712
NM_024312.5(GNPTAB):c.3250-1_3250delinsAT rs1060499687
NM_024312.5(GNPTAB):c.3336-1G>A rs397507562
NM_024312.5(GNPTAB):c.3539C>T (p.Ser1180Phe) rs1060499689
NM_024312.5(GNPTAB):c.3575T>C (p.Phe1192Ser) rs1060499688
NM_024312.5(GNPTAB):c.378dup (p.Glu127fs) rs1555271865
NM_024312.5(GNPTAB):c.571G>A (p.Val191Ile) rs751953529

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