ClinVar Miner

List of variants in gene GNPTAB studied for not specified

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.3135+5T>C rs759935 0.60955
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148 0.58708
NM_024312.5(GNPTAB):c.3336-25T>C rs3736476 0.30966
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655 0.09551
NM_024312.5(GNPTAB):c.*43C>T rs79089208 0.03438
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678 0.02992
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_024312.5(GNPTAB):c.1612+28T>C rs74389509 0.02246
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569 0.01207
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
NM_024312.5(GNPTAB):c.1986G>A (p.Ala662=) rs112000802 0.00074
NM_024312.5(GNPTAB):c.323+36A>G rs182910639 0.00070
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_024312.5(GNPTAB):c.3335+14G>A rs141927805 0.00041
NM_024312.5(GNPTAB):c.3693+32A>G rs186221736 0.00031
NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=) rs61935741 0.00019
NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg) rs192687061 0.00009
NM_024312.5(GNPTAB):c.1960A>G (p.Ser654Gly) rs151209875 0.00008
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_024312.5(GNPTAB):c.2354T>G (p.Leu785Trp) rs144060383 0.00002
NM_024312.5(GNPTAB):c.954C>T (p.Ile318=) rs150451045 0.00002
NM_024312.5(GNPTAB):c.1363G>T (p.Ala455Ser) rs137853822 0.00001
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=) rs139215843 0.00001
NM_024312.5(GNPTAB):c.3314A>G (p.Tyr1105Cys) rs775751653 0.00001
NM_024312.5(GNPTAB):c.3694-1G>A rs1297022622 0.00001
NM_024312.5(GNPTAB):c.961A>G (p.Ser321Gly) rs137853824 0.00001
GRCh37/hg19 12q23.2(chr12:102143208-102155349)x1
NM_024312.5(GNPTAB):c.-62GGC[7] rs76300806
NM_024312.5(GNPTAB):c.1144A>G (p.Thr382Ala)
NM_024312.5(GNPTAB):c.1847C>T (p.Thr616Met)
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
NM_024312.5(GNPTAB):c.202C>T (p.Arg68Trp) rs531738916
NM_024312.5(GNPTAB):c.2148G>C (p.Leu716Phe) rs374600127
NM_024312.5(GNPTAB):c.229G>C (p.Val77Leu) rs985184620
NM_024312.5(GNPTAB):c.229GTT[1] (p.Val78del) rs281864952
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.5(GNPTAB):c.571+6A>G
NM_024312.5(GNPTAB):c.630C>T (p.Gly210=) rs886038684

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