ClinVar Miner

List of variants in gene SLC12A5 reported by GeneDx

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_020708.5(SLC12A5):c.1787+61T>C rs3848727 0.98494
NM_001134771.2(SLC12A5):c.121+293A>G rs6130997 0.48534
NM_020708.5(SLC12A5):c.1688+108A>C rs2297199 0.44201
NM_020708.5(SLC12A5):c.52+261G>A rs2868364 0.38586
NM_020708.5(SLC12A5):c.53-112T>C rs11699481 0.32534
NM_020708.5(SLC12A5):c.1570-234C>T rs2297198 0.14802
NM_020708.5(SLC12A5):c.280-45C>T rs3746515 0.11932
NM_020708.5(SLC12A5):c.427-285G>A rs74174994 0.10422
NM_020708.5(SLC12A5):c.355C>A (p.Arg119=) rs3848724 0.02859
NM_020708.5(SLC12A5):c.534T>C (p.Gly178=) rs3746519 0.02856
NM_020708.5(SLC12A5):c.1155C>T (p.Ile385=) rs35804246 0.02850
NM_020708.5(SLC12A5):c.279+39C>T rs2868365 0.02836
NM_020708.5(SLC12A5):c.1006A>G (p.Thr336Ala) rs778157213 0.00002
NM_020708.5(SLC12A5):c.692G>A (p.Arg231His) rs1555863134 0.00001
NM_020708.5(SLC12A5):c.983A>G (p.Asn328Ser) rs2084546554 0.00001
NC_000020.11:g.46021442ATGA[5] rs11467872
NM_020708.5(SLC12A5):c.1570-316del rs11405083
NM_020708.5(SLC12A5):c.1645A>G (p.Ile549Val) rs762984846
NM_020708.5(SLC12A5):c.1688+4C>T rs778214369
NM_020708.5(SLC12A5):c.2788-263T>A rs2297200
NM_020708.5(SLC12A5):c.428C>T (p.Thr143Met) rs764963565
NM_020708.5(SLC12A5):c.559G>T (p.Gly187Cys) rs2145484626

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