List of variants in gene SCNN1B studied for pseudohypoaldosteronism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 192

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HGVS	dbSNP	gnomAD frequency
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=)	rs238547	0.66128
NM_000336.3(SCNN1B):c.1152+43G>A	rs2303157	0.23323
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=)	rs250563	0.10382
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val)	rs1799980	0.03941
NM_000336.3(SCNN1B):c.1467-14G>A	rs34618783	0.02274
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys)	rs61729788	0.00962
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=)	rs139950628	0.00551
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)	rs35731153	0.00463
NM_000336.3(SCNN1B):c.777-5T>C	rs61759915	0.00311
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=)	rs74012901	0.00290
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=)	rs61759923	0.00210
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln)	rs72654356	0.00186
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser)	rs61759926	0.00180
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=)	rs61759916	0.00155
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=)	rs80027401	0.00141
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp)	rs139310448	0.00132
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=)	rs61759917	0.00123
NM_000336.3(SCNN1B):c.1152+10T>C	rs72654341	0.00108
NM_000336.3(SCNN1B):c.1190G>T (p.Arg397Leu)	rs61729789	0.00101
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=)	rs13306628	0.00063
NM_000336.3(SCNN1B):c.1270+14C>T	rs141909058	0.00051
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val)	rs140927806	0.00051
NM_000336.3(SCNN1B):c.1346+8C>T	rs200714599	0.00046
NM_000336.3(SCNN1B):c.*241G>A	rs529644900	0.00040
NM_000336.3(SCNN1B):c.*278C>T	rs549628659	0.00038
NM_000336.3(SCNN1B):c.657C>T (p.Tyr219=)	rs746821073	0.00034
NM_000336.3(SCNN1B):c.803A>G (p.His268Arg)	rs138004955	0.00029
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=)	rs762486495	0.00024
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=)	rs541449814	0.00023
NM_000336.2(SCNN1B):c.-150C>G	rs530631658	0.00022
NM_000336.3(SCNN1B):c.903A>G (p.Ile301Met)	rs149667567	0.00021
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=)	rs2303156	0.00019
NM_000336.3(SCNN1B):c.1299C>T (p.Ser433=)	rs149172890	0.00019
NM_000336.3(SCNN1B):c.*94G>A	rs72654359	0.00018
NM_000336.3(SCNN1B):c.1694G>A (p.Arg565Gln)	rs13306627	0.00018
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=)	rs2303155	0.00016
NM_000336.3(SCNN1B):c.1688G>A (p.Arg563Gln)	rs149868979	0.00016
NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His)	rs140945152	0.00016
NM_000336.3(SCNN1B):c.1105C>A (p.Pro369Thr)	rs137852711	0.00014
NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile)	rs147926991	0.00014
NM_000336.3(SCNN1B):c.1376T>C (p.Met459Thr)	rs201369319	0.00011
NM_000336.3(SCNN1B):c.*20G>A	rs755277136	0.00010
NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys)	rs373718332	0.00009
NM_000336.3(SCNN1B):c.586-15T>C	rs371098444	0.00009
NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln)	rs765336896	0.00008
NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His)	rs200966246	0.00007
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His)	rs138784278	0.00007
NM_000336.3(SCNN1B):c.1894G>A (p.Glu632Lys)	rs140609339	0.00007
NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=)	rs13306633	0.00006
NM_000336.3(SCNN1B):c.1322T>C (p.Ile441Thr)	rs770635298	0.00006
NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe)	rs199810483	0.00006
NM_000336.3(SCNN1B):c.6C>T (p.His2=)	rs564570566	0.00006
NM_000336.3(SCNN1B):c.918C>T (p.Tyr306=)	rs374264520	0.00006
NM_000336.3(SCNN1B):c.91G>A (p.Asp31Asn)	rs370777535	0.00005
NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=)	rs758251652	0.00004
NM_000336.3(SCNN1B):c.1732G>A (p.Val578Met)	rs745885983	0.00004
NM_000336.3(SCNN1B):c.177C>T (p.Phe59=)	rs778937866	0.00004
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His)	rs776613953	0.00004
NM_000336.3(SCNN1B):c.1904G>A (p.Ser635Asn)	rs13306629	0.00004
NM_000336.3(SCNN1B):c.246C>T (p.Ser82=)	rs757137077	0.00004
NM_000336.3(SCNN1B):c.1404+7C>T	rs1485041245	0.00003
NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln)	rs201279350	0.00003
NM_000336.3(SCNN1B):c.*187G>A	rs886051816	0.00002
NM_000336.3(SCNN1B):c.1542+1G>A	rs550424284	0.00002
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser)	rs137852706	0.00001
NM_000336.3(SCNN1B):c.1199A>G (p.Asn400Ser)	rs768729700	0.00001
NM_000336.3(SCNN1B):c.1313A>G (p.Glu438Gly)	rs749772908	0.00001
NM_000336.3(SCNN1B):c.1419C>T (p.His473=)	rs193211556	0.00001
NM_000336.3(SCNN1B):c.159C>T (p.Phe53=)	rs749106839	0.00001
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter)	rs137852704	0.00001
NM_000336.3(SCNN1B):c.1838C>T (p.Pro613Leu)	rs1391471777	0.00001
NM_000336.3(SCNN1B):c.561C>T (p.His187=)	rs773448523	0.00001
NM_000336.3(SCNN1B):c.648dup (p.Glu217fs)	rs747116196	0.00001
NM_000336.3(SCNN1B):c.753C>T (p.Phe251=)	rs748167291	0.00001
NM_000336.3(SCNN1B):c.863A>G (p.Asn288Ser)	rs137852712	0.00001
NM_000336.2:c.-7632_-9+6393del
NM_000336.3(SCNN1B):c.*446C>A	rs1452320359
NM_000336.3(SCNN1B):c.1006G>A (p.Ala336Thr)
NM_000336.3(SCNN1B):c.1039C>T (p.Leu347Phe)
NM_000336.3(SCNN1B):c.1041C>T (p.Leu347=)
NM_000336.3(SCNN1B):c.1042G>A (p.Val348Met)
NM_000336.3(SCNN1B):c.1044+4T>G
NM_000336.3(SCNN1B):c.1049A>G (p.Lys350Arg)
NM_000336.3(SCNN1B):c.1049A>T (p.Lys350Met)
NM_000336.3(SCNN1B):c.1054C>T (p.Gln352Ter)
NM_000336.3(SCNN1B):c.1066G>A (p.Glu356Lys)
NM_000336.3(SCNN1B):c.1069C>A (p.Pro357Thr)	rs932297365
NM_000336.3(SCNN1B):c.1074C>A (p.Tyr358Ter)	rs1182475940
NM_000336.3(SCNN1B):c.1074C>G (p.Tyr358Ter)
NM_000336.3(SCNN1B):c.1115A>T (p.Asn372Ile)	rs1555489480
NM_000336.3(SCNN1B):c.1189C>T (p.Arg397Cys)
NM_000336.3(SCNN1B):c.118C>T (p.Arg40Cys)
NM_000336.3(SCNN1B):c.1212C>A (p.Tyr404Ter)
NM_000336.3(SCNN1B):c.1228C>T (p.Arg410Cys)	rs200401219
NM_000336.3(SCNN1B):c.1228del (p.Arg410fs)
NM_000336.3(SCNN1B):c.1243T>C (p.Cys415Arg)
NM_000336.3(SCNN1B):c.1270+11G>T	rs369905217
NM_000336.3(SCNN1B):c.1270+6C>T
NM_000336.3(SCNN1B):c.1271-10T>C	rs886051814
NM_000336.3(SCNN1B):c.1271-1G>C
NM_000336.3(SCNN1B):c.1286A>G (p.Asp429Gly)
NM_000336.3(SCNN1B):c.1299C>A (p.Ser433Arg)
NM_000336.3(SCNN1B):c.12G>T (p.Lys4Asn)
NM_000336.3(SCNN1B):c.1304C>T (p.Ala435Val)
NM_000336.3(SCNN1B):c.1310G>A (p.Arg437Lys)
NM_000336.3(SCNN1B):c.1312_1315del (p.Glu438fs)
NM_000336.3(SCNN1B):c.1314_1315del (p.Glu438fs)
NM_000336.3(SCNN1B):c.1335G>C (p.Lys445Asn)
NM_000336.3(SCNN1B):c.1336G>A (p.Glu446Lys)	rs1962919047
NM_000336.3(SCNN1B):c.1346+16C>T
NM_000336.3(SCNN1B):c.1346+1G>A
NM_000336.3(SCNN1B):c.1367C>T (p.Thr456Ile)
NM_000336.3(SCNN1B):c.1369A>G (p.Ile457Val)
NM_000336.3(SCNN1B):c.1404+15G>A	rs886051815
NM_000336.3(SCNN1B):c.1404+1G>T
NM_000336.3(SCNN1B):c.1436G>A (p.Arg479Gln)
NM_000336.3(SCNN1B):c.1466+18C>T
NM_000336.3(SCNN1B):c.1475T>A (p.Ile492Asn)
NM_000336.3(SCNN1B):c.1475T>C (p.Ile492Thr)
NM_000336.3(SCNN1B):c.1492T>G (p.Tyr498Asp)
NM_000336.3(SCNN1B):c.14A>G (p.Lys5Arg)
NM_000336.3(SCNN1B):c.1501G>A (p.Glu501Lys)
NM_000336.3(SCNN1B):c.153G>A (p.Met51Ile)
NM_000336.3(SCNN1B):c.1543-6C>T
NM_000336.3(SCNN1B):c.1560G>A (p.Ser520=)	rs146440372
NM_000336.3(SCNN1B):c.1560G>C (p.Ser520=)	rs146440372
NM_000336.3(SCNN1B):c.1566G>C (p.Leu522=)
NM_000336.3(SCNN1B):c.1614C>A (p.Ile538=)
NM_000336.3(SCNN1B):c.1642G>A (p.Val548Met)
NM_000336.3(SCNN1B):c.1687C>T (p.Arg563Trp)
NM_000336.3(SCNN1B):c.1703A>C (p.Gln568Pro)
NM_000336.3(SCNN1B):c.1714G>T (p.Ala572Ser)
NM_000336.3(SCNN1B):c.1736C>G (p.Ala579Gly)
NM_000336.3(SCNN1B):c.1745T>A (p.Val582Glu)	rs1963026711
NM_000336.3(SCNN1B):c.1750G>A (p.Ala584Thr)
NM_000336.3(SCNN1B):c.1774C>T (p.Pro592Ser)
NM_000336.3(SCNN1B):c.1784C>T (p.Ala595Val)
NM_000336.3(SCNN1B):c.178G>A (p.Ala60Thr)
NM_000336.3(SCNN1B):c.1795C>T (p.Pro599Ser)
NM_000336.3(SCNN1B):c.1817G>C (p.Ser606Thr)
NM_000336.3(SCNN1B):c.1817G>T (p.Ser606Ile)
NM_000336.3(SCNN1B):c.1819G>A (p.Glu607Lys)
NM_000336.3(SCNN1B):c.1822C>A (p.Gln608Lys)
NM_000336.3(SCNN1B):c.1826C>T (p.Ala609Val)
NM_000336.3(SCNN1B):c.1831C>G (p.Pro611Ala)
NM_000336.3(SCNN1B):c.1847C>T (p.Pro616Leu)	rs387906402
NM_000336.3(SCNN1B):c.1847dup (p.Pro617fs)
NM_000336.3(SCNN1B):c.1849C>A (p.Pro617Thr)
NM_000336.3(SCNN1B):c.1849C>T (p.Pro617Ser)	rs137852708
NM_000336.3(SCNN1B):c.1852C>T (p.Pro618Ser)	rs536187488
NM_000336.3(SCNN1B):c.1870C>T (p.Arg624Cys)
NM_000336.3(SCNN1B):c.1871G>A (p.Arg624His)
NM_000336.3(SCNN1B):c.1880C>T (p.Pro627Leu)
NM_000336.3(SCNN1B):c.1910G>T (p.Gly637Val)
NM_000336.3(SCNN1B):c.232G>A (p.Glu78Lys)
NM_000336.3(SCNN1B):c.240C>T (p.Ser80=)
NM_000336.3(SCNN1B):c.268A>G (p.Met90Val)
NM_000336.3(SCNN1B):c.283G>A (p.Val95Ile)
NM_000336.3(SCNN1B):c.361G>A (p.Ala121Thr)
NM_000336.3(SCNN1B):c.394A>G (p.Ser132Gly)
NM_000336.3(SCNN1B):c.445C>G (p.Pro149Ala)
NM_000336.3(SCNN1B):c.448C>G (p.Leu150Val)
NM_000336.3(SCNN1B):c.451G>C (p.Val151Leu)
NM_000336.3(SCNN1B):c.486G>T (p.Met162Ile)
NM_000336.3(SCNN1B):c.530G>A (p.Ser177Asn)	rs748962184
NM_000336.3(SCNN1B):c.539C>A (p.Ser180Ter)	rs2142020387
NM_000336.3(SCNN1B):c.554A>T (p.Asn185Ile)
NM_000336.3(SCNN1B):c.556G>C (p.Ala186Pro)
NM_000336.3(SCNN1B):c.562G>A (p.Gly188Arg)
NM_000336.3(SCNN1B):c.586-6C>A
NM_000336.3(SCNN1B):c.589A>G (p.Ser197Gly)
NM_000336.3(SCNN1B):c.625A>C (p.Thr209Pro)
NM_000336.3(SCNN1B):c.653G>A (p.Trp218Ter)
NM_000336.3(SCNN1B):c.655T>G (p.Tyr219Asp)
NM_000336.3(SCNN1B):c.705A>G (p.Leu235=)
NM_000336.3(SCNN1B):c.748C>G (p.Leu250Val)	rs1962399992
NM_000336.3(SCNN1B):c.76C>A (p.Leu26Met)
NM_000336.3(SCNN1B):c.775C>T (p.Arg259Trp)
NM_000336.3(SCNN1B):c.776+9C>A	rs1962401157
NM_000336.3(SCNN1B):c.7G>A (p.Val3Met)
NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu)	rs137852709
NM_000336.3(SCNN1B):c.815G>A (p.Cys272Tyr)
NM_000336.3(SCNN1B):c.84G>A (p.Trp28Ter)
NM_000336.3(SCNN1B):c.857C>T (p.Ser286Leu)
NM_000336.3(SCNN1B):c.866C>G (p.Pro289Arg)
NM_000336.3(SCNN1B):c.87C>A (p.Tyr29Ter)
NM_000336.3(SCNN1B):c.88T>C (p.Cys30Arg)
NM_000336.3(SCNN1B):c.932C>T (p.Ala311Val)
NM_000336.3(SCNN1B):c.935C>T (p.Ser312Phe)
NM_000336.3(SCNN1B):c.943G>A (p.Gly315Arg)
NM_000336.3(SCNN1B):c.964G>T (p.Glu322Ter)
NM_000336.3(SCNN1B):c.998G>A (p.Gly333Asp)

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