ClinVar Miner

List of variants in gene SLC20A2 reported as pathogenic for not provided

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu) rs763252801 0.00001
NM_001257180.2(SLC20A2):c.1794+1G>C rs1052304545 0.00001
GRCh37/hg19 8p11.21(chr8:42274264-42307548)x1
NM_001257180.2(SLC20A2):c.1117C>T (p.Gln373Ter) rs781183228
NM_001257180.2(SLC20A2):c.1157dup (p.Tyr386Ter)
NM_001257180.2(SLC20A2):c.1158C>A (p.Tyr386Ter) rs2131006757
NM_001257180.2(SLC20A2):c.1223C>A (p.Ser408Ter) rs747841902
NM_001257180.2(SLC20A2):c.1239_1242del (p.Ser413fs)
NM_001257180.2(SLC20A2):c.1303dup (p.Ser435fs)
NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter) rs751093906
NM_001257180.2(SLC20A2):c.1399C>T (p.Arg467Ter) rs1563452873
NM_001257180.2(SLC20A2):c.1423A>T (p.Lys475Ter) rs759413136
NM_001257180.2(SLC20A2):c.1440_1443dup (p.Glu482fs) rs2131003774
NM_001257180.2(SLC20A2):c.1523+1G>A
NM_001257180.2(SLC20A2):c.1523+1G>T rs2131003180
NM_001257180.2(SLC20A2):c.1604G>A (p.Trp535Ter) rs1554546830
NM_001257180.2(SLC20A2):c.1652G>A (p.Trp551Ter)
NM_001257180.2(SLC20A2):c.1681A>T (p.Lys561Ter)
NM_001257180.2(SLC20A2):c.1794+1G>A
NM_001257180.2(SLC20A2):c.1847G>A (p.Trp616Ter)
NM_001257180.2(SLC20A2):c.1848G>A (p.Trp616Ter)
NM_001257180.2(SLC20A2):c.21del (p.Leu7fs) rs1563498184
NM_001257180.2(SLC20A2):c.23G>A (p.Trp8Ter) rs2131228451
NM_001257180.2(SLC20A2):c.290-8A>G
NM_001257180.2(SLC20A2):c.338C>G (p.Ser113Ter) rs886041397
NM_001257180.2(SLC20A2):c.344C>T (p.Thr115Met)
NM_001257180.2(SLC20A2):c.410G>A (p.Trp137Ter)
NM_001257180.2(SLC20A2):c.431-2A>T
NM_001257180.2(SLC20A2):c.458dup (p.Leu153fs) rs1554557554
NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer) rs398122395
NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs) rs398122397
NM_001257180.2(SLC20A2):c.617_618dup (p.Gly207fs)
NM_001257180.2(SLC20A2):c.687dup (p.Val230fs)
NM_001257180.2(SLC20A2):c.730_730+1del
NM_001257180.2(SLC20A2):c.783_786del (p.Ser261fs)
NM_001257180.2(SLC20A2):c.852del (p.Ile285fs)
NM_001257180.2(SLC20A2):c.935-1G>A
NM_001257180.2(SLC20A2):c.935-2A>G rs1586025869
NM_001257180.2(SLC20A2):c.943_944del (p.Leu315fs)
NM_001257180.2(SLC20A2):c.971C>A (p.Ser324Ter) rs886041752

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