ClinVar Miner

List of variants in gene GNPTAB reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP
NM_024312.5(GNPTAB):c.-145G>A rs544455347
NM_024312.5(GNPTAB):c.-157C>A rs140600142
NM_024312.5(GNPTAB):c.-33C>T rs372860805
NM_024312.5(GNPTAB):c.-62_-60GGC[7] rs76300806
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_024312.5(GNPTAB):c.1113+12T>G rs757949849
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=) rs754258764
NM_024312.5(GNPTAB):c.117+15C>T rs886048854
NM_024312.5(GNPTAB):c.1269C>T (p.His423=) rs111863978
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=) rs78347057
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=) rs61745799
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=) rs192607073
NM_024312.5(GNPTAB):c.203G>A (p.Arg68Gln) rs145725972
NM_024312.5(GNPTAB):c.204-15G>T rs10860787
NM_024312.5(GNPTAB):c.2225A>G (p.Asn742Ser) rs886048851
NM_024312.5(GNPTAB):c.2481C>T (p.Gly827=) rs3751249
NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=) rs77410031
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=) rs141529327
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=) rs139215843
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp) rs555336070
NM_024312.5(GNPTAB):c.3135+5T>C rs759935
NM_024312.5(GNPTAB):c.3194T>C (p.Ile1065Thr) rs755148701
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met) rs34083392
NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=) rs61935741
NM_024312.5(GNPTAB):c.3286C>T (p.Pro1096Ser) rs765553769
NM_024312.5(GNPTAB):c.3306C>G (p.His1102Gln) rs886048850
NM_024312.5(GNPTAB):c.3335+11C>G rs191087950
NM_024312.5(GNPTAB):c.3335+14G>A rs141927805
NM_024312.5(GNPTAB):c.348G>A (p.Thr116=) rs145244231
NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=) rs201592854
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678
NM_024312.5(GNPTAB):c.42G>C (p.Leu14=) rs376257286
NM_024312.5(GNPTAB):c.457G>A (p.Asp153Asn) rs886048853
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=) rs371813268
NM_024312.5(GNPTAB):c.54T>C (p.Tyr18=) rs749134354
NM_024312.5(GNPTAB):c.571+12T>C rs112056979
NM_024312.5(GNPTAB):c.703C>G (p.Pro235Ala) rs886048852
NM_024312.5(GNPTAB):c.775C>T (p.Gln259Ter) rs1566078120
NM_024312.5(GNPTAB):c.863T>C (p.Met288Thr) rs753544044

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