ClinVar Miner

List of variants in gene GNPTAB reported as uncertain significance for not provided

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
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.2341G>A (p.Val781Met) rs183435240 0.00029
NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp) rs145586576 0.00025
NM_024312.5(GNPTAB):c.1862A>G (p.Asn621Ser) rs146476305 0.00025
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val) rs141329633 0.00022
NM_024312.5(GNPTAB):c.2582G>A (p.Arg861Lys) rs139411012 0.00020
NM_024312.5(GNPTAB):c.3700G>A (p.Ala1234Thr) rs373314316 0.00010
NM_024312.5(GNPTAB):c.2705A>G (p.Asp902Gly) rs375156660 0.00007
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_024312.5(GNPTAB):c.1778A>T (p.Asn593Ile) rs188192351 0.00006
NM_024312.5(GNPTAB):c.1885A>G (p.Ile629Val) rs374265672 0.00006
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu) rs140656599 0.00006
NM_024312.5(GNPTAB):c.1818G>A (p.Met606Ile) rs770996690 0.00004
NM_024312.5(GNPTAB):c.117G>T (p.Glu39Asp) rs765682282 0.00003
NM_024312.5(GNPTAB):c.1053C>T (p.Asn351=) rs749261391 0.00001
NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=) rs775742250 0.00001
NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp) rs373662553 0.00001
NM_024312.5(GNPTAB):c.2119G>A (p.Ala707Thr) rs376620571 0.00001
NM_024312.5(GNPTAB):c.2347G>A (p.Glu783Lys) rs765924360 0.00001
NM_024312.5(GNPTAB):c.257A>C (p.Asp86Ala) rs763827719 0.00001
NM_024312.5(GNPTAB):c.3265A>T (p.Ser1089Cys) rs766107961 0.00001
NM_024312.5(GNPTAB):c.452T>G (p.Leu151Arg) rs200015550 0.00001
NM_024312.5(GNPTAB):c.1051A>G (p.Asn351Asp)
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro) rs112543062
NM_024312.5(GNPTAB):c.1442G>T (p.Gly481Val)
NM_024312.5(GNPTAB):c.1547A>T (p.Asp516Val)
NM_024312.5(GNPTAB):c.2852G>A (p.Arg951Gln) rs777346722
NM_024312.5(GNPTAB):c.2937G>C (p.Lys979Asn)
NM_024312.5(GNPTAB):c.3751C>T (p.Pro1251Ser) rs1555267626
NM_024312.5(GNPTAB):c.758C>T (p.Ser253Phe)
NM_024312.5(GNPTAB):c.923C>T (p.Ala308Val)
NM_024312.5(GNPTAB):c.945T>G (p.Asp315Glu) rs2137124308
NM_024312.5(GNPTAB):c.964C>T (p.Arg322Cys) rs2137124252
NM_024312.5(GNPTAB):c.9C>G (p.Phe3Leu)

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