ClinVar Miner

List of variants in gene GNPTAB reported by Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.2019A>G (p.Lys673=) rs551905649 0.00005
NM_024312.5(GNPTAB):c.1600G>A (p.Asp534Asn) rs750240374 0.00001
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys) rs769587233 0.00001
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.1540C>T (p.Leu514Phe) rs1953089808
NM_024312.5(GNPTAB):c.1613-25del rs546802775
NM_024312.5(GNPTAB):c.2129_2135del (p.Ser710fs) rs1953060183
NM_024312.5(GNPTAB):c.2369_2370del (p.Phe790fs) rs1060499685
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.2550_2554dup (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.2953_2954delinsA (p.Val985fs) rs1952989955
NM_024312.5(GNPTAB):c.2957G>A (p.Arg986His) rs776312538
NM_024312.5(GNPTAB):c.2985_2989del (p.Phe995fs) rs1952988642
NM_024312.5(GNPTAB):c.3250-10_3335+112dup rs1555268712
NM_024312.5(GNPTAB):c.3250-16_3335+104dup rs1952918542
NM_024312.5(GNPTAB):c.3250-1_3250delinsAT rs1060499687
NM_024312.5(GNPTAB):c.3307_3318delinsCAGTAACT (p.Lys1103_Lys1106delinsGlnTer) rs1952921914
NM_024312.5(GNPTAB):c.3336-1G>A rs397507562
NM_024312.5(GNPTAB):c.3449del (p.Leu1150fs) rs1060499684
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.3602G>A (p.Trp1201Ter) rs1952850511
NM_024312.5(GNPTAB):c.378dup (p.Glu127fs) rs1555271865
NM_024312.5(GNPTAB):c.571+4A>T rs1868618470
NM_024312.5(GNPTAB):c.571G>A (p.Val191Ile) rs751953529

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