ClinVar Miner

List of variants in gene GNPTAB reported by GeneDx

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Total variants: 22
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HGVS dbSNP
NM_024312.5(GNPTAB):c.117+215C>T rs7980363
NM_024312.5(GNPTAB):c.1285-166G>A rs7963747
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148
NM_024312.5(GNPTAB):c.204-103G>T rs11111024
NM_024312.5(GNPTAB):c.204-15G>T rs10860787
NM_024312.5(GNPTAB):c.204-236G>A rs222512
NM_024312.5(GNPTAB):c.2119G>A (p.Ala707Thr) rs376620571
NM_024312.5(GNPTAB):c.2148G>C (p.Leu716Phe) rs374600127
NM_024312.5(GNPTAB):c.2249dup (p.Asn750fs) rs281864991
NM_024312.5(GNPTAB):c.2341G>A (p.Val781Met) rs183435240
NM_024312.5(GNPTAB):c.3135+5T>C rs759935
NM_024312.5(GNPTAB):c.324-202T>C rs17032008
NM_024312.5(GNPTAB):c.3281_3282del (p.Asn1093_Cys1094insTer) rs1594207573
NM_024312.5(GNPTAB):c.3434+112C>G rs3736475
NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897
NM_024312.5(GNPTAB):c.365+145C>T rs2108694
NM_024312.5(GNPTAB):c.366-233G>A rs6539012
NM_024312.5(GNPTAB):c.771+276A>G rs4764816
NM_024312.5(GNPTAB):c.772-148T>C rs4403858

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