ClinVar Miner

List of variants in gene GNPTAB reported as benign for not provided

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.204-236G>A rs222512 0.97158
NM_024312.5(GNPTAB):c.366-233G>A rs6539012 0.67271
NM_024312.5(GNPTAB):c.771+276A>G rs4764816 0.63987
NM_024312.5(GNPTAB):c.772-148T>C rs4403858 0.61207
NM_024312.5(GNPTAB):c.3135+5T>C rs759935 0.60955
NM_024312.5(GNPTAB):c.3434+112C>G rs3736475 0.60946
NM_024312.5(GNPTAB):c.365+145C>T rs2108694 0.60798
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148 0.58708
NM_024312.5(GNPTAB):c.1285-166G>A rs7963747 0.57958
NM_024312.5(GNPTAB):c.3602+167C>T rs6539011 0.44502
NM_024312.5(GNPTAB):c.3336-25T>C rs3736476 0.30966
NM_024312.5(GNPTAB):c.204-103G>T rs11111024 0.12389
NM_024312.5(GNPTAB):c.3136-257C>T rs11111002 0.11150
NM_024312.5(GNPTAB):c.3602+62A>G rs11110997 0.09704
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655 0.09551
NM_024312.5(GNPTAB):c.365+284G>A rs55764824 0.08093
NM_024312.5(GNPTAB):c.934-142T>C rs17724970 0.07503
NM_024312.5(GNPTAB):c.3136-295G>A rs12366292 0.06407
NM_024312.5(GNPTAB):c.3694-84A>T rs117751503 0.05791
NM_024312.5(GNPTAB):c.3136-150_3136-149insAG rs111593080 0.05315
NM_024312.5(GNPTAB):c.636+64G>A rs1860088 0.03869
NM_024312.5(GNPTAB):c.*43C>T rs79089208 0.03438
NM_024312.5(GNPTAB):c.3435-246A>G rs2271641 0.03083
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678 0.02992
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.572-52A>G rs116100586 0.01797
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=) rs11111008 0.01428
NM_024312.5(GNPTAB):c.204-15G>T rs10860787 0.01423
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_024312.5(GNPTAB):c.1114-17T>C rs112075452 0.01149
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_024312.5(GNPTAB):c.1284+286G>A rs11111014
NM_024312.5(GNPTAB):c.1612+201TGTTT[4] rs145655441
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.5(GNPTAB):c.323+11dup rs546617430
NM_024312.5(GNPTAB):c.365+96_365+97del rs4015837

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