List of variants reported as pathogenic by European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP

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Total variants: 39

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HGVS	dbSNP	gnomAD frequency
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	rs138977195	0.00041
NM_001126108.2(SLC12A3):c.2856+1G>T	rs199974259	0.00024
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)	rs121909379	0.00018
NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys)	rs373899077	0.00011
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)	rs759377924	0.00009
NM_001126108.2(SLC12A3):c.602-16G>A	rs750901478	0.00009
NM_001177316.2(SLC34A3):c.496G>A (p.Gly166Ser)	rs200536604	0.00009
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)	rs148038173	0.00008
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)	rs199849117	0.00008
NM_001126108.2(SLC12A3):c.2037+1G>A	rs775799617	0.00005
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg)	rs752101663	0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)	rs34803727	0.00005
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)	rs374163823	0.00004
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met)	rs371443644	0.00004
NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln)	rs1274973729	0.00004
NM_001126108.2(SLC12A3):c.1670-191C>T	rs374182921	0.00003
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His)	rs147901432	0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)	rs201255508	0.00003
NM_001126108.2(SLC12A3):c.644T>C (p.Leu215Pro)	rs780594361	0.00003
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)	rs775931992	0.00002
NM_001126108.2(SLC12A3):c.1180+1G>T	rs749098014	0.00001
NM_001126108.2(SLC12A3):c.1568-1G>A	rs199511487	0.00001
NM_001126108.2(SLC12A3):c.2633+1G>A	rs778455414	0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln)	rs369360334	0.00001
NM_001126108.2(SLC12A3):c.625C>T (p.Arg209Trp)	rs28936388	0.00001
NM_001126108.2(SLC12A3):c.1095+4A>G	rs2144695925
NM_001126108.2(SLC12A3):c.1096-540_1181-347del
NM_001126108.2(SLC12A3):c.1196_1202dup (p.Ala401_Ser402insTer)	rs751871500
NM_001126108.2(SLC12A3):c.1687C>T (p.Gln563Ter)	rs2144723125
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly)	rs200697179
NM_001126108.2(SLC12A3):c.1930del (p.Gln644fs)	rs779215330
NM_001126108.2(SLC12A3):c.1A>G (p.Met1Val)	rs1319085522
NM_001126108.2(SLC12A3):c.201T>A (p.Tyr67Ter)	rs1227599828
NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs)	rs780299444
NM_001126108.2(SLC12A3):c.2663T>C (p.Leu888Pro)	rs764833797
NM_001126108.2(SLC12A3):c.2721-2A>T	rs2144766556
NM_001126108.2(SLC12A3):c.2817G>A (p.Trp939Ter)	rs760134110
NM_001126108.2(SLC12A3):c.429+1_429+28del	rs2144682680
NM_001126108.2(SLC12A3):c.964+1G>T	rs1596895536

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