ClinVar Miner

List of variants in gene GNPTAB reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 35
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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.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.2611G>A (p.Gly871Ser) rs56212569 0.01207
NM_024312.5(GNPTAB):c.323+36A>G rs182910639 0.00070
NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn) rs143907628 0.00049
NM_024312.5(GNPTAB):c.3114C>T (p.His1038=) rs148918729 0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp) rs145586576 0.00025
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447 0.00009
NM_024312.5(GNPTAB):c.377T>A (p.Leu126Ter) rs774506925 0.00002
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) rs281864969 0.00001
NM_024312.5(GNPTAB):c.1053C>T (p.Asn351=) rs749261391 0.00001
NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp) rs373662553 0.00001
NM_024312.5(GNPTAB):c.2896del (p.Met966fs) rs398124398 0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897 0.00001
NM_024312.5(GNPTAB):c.1036_1037del (p.Ile346fs) rs398124396
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro) rs112543062
NM_024312.5(GNPTAB):c.1298G>A (p.Trp433Ter) rs398124397
NM_024312.5(GNPTAB):c.157_160del (p.Phe53fs) rs794727302
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.5(GNPTAB):c.3326dup (p.Asn1109fs) rs797044663
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs) rs281864954
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3560_3561del (p.Glu1187fs) rs781689303
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.732_733del (p.Lys244fs) rs398124400
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) rs281864964

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