List of variants reported as uncertain significance for Sitosterolemia

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 139

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HGVS	dbSNP	gnomAD frequency
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)	rs141828689	0.00109
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys)	rs34754243	0.00100
NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu)	rs150401285	0.00047
NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg)	rs142125966	0.00047
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)	rs150890296	0.00036
NM_022436.3(ABCG5):c.431T>C (p.Val144Ala)	rs376797531	0.00032
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe)	rs148997255	0.00027
NM_022436.3(ABCG5):c.634+3A>G	rs374755597	0.00026
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn)	rs199984328	0.00025
NM_022437.3(ABCG8):c.1629G>T (p.Arg543Ser)	rs201690654	0.00019
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)	rs149418765	0.00015
NM_022436.3(ABCG5):c.226G>A (p.Val76Met)	rs368811625	0.00014
NM_022436.3(ABCG5):c.112C>G (p.Leu38Val)	rs375829761	0.00009
NM_022436.3(ABCG5):c.1733A>G (p.Asn578Ser)	rs146534033	0.00009
NM_022436.3(ABCG5):c.1348G>A (p.Asp450Asn)	rs530616214	0.00008
NM_022436.3(ABCG5):c.116G>A (p.Gly39Asp)	rs371929020	0.00007
NM_022436.3(ABCG5):c.758G>A (p.Arg253His)	rs148186696	0.00007
NM_022436.3(ABCG5):c.1216C>T (p.Arg406Trp)	rs752962014	0.00006
NM_022436.3(ABCG5):c.1856G>C (p.Arg619Thr)	rs374012053	0.00006
NM_022436.3(ABCG5):c.78G>T (p.Glu26Asp)	rs144622073	0.00006
NM_022436.3(ABCG5):c.98C>G (p.Pro33Arg)	rs778605187	0.00006
NM_022436.3(ABCG5):c.1500A>G (p.Gly500=)	rs767584159	0.00005
NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile)	rs200839584	0.00004
NM_022436.3(ABCG5):c.238C>A (p.Gln80Lys)	rs373819340	0.00004
NM_022436.3(ABCG5):c.392A>G (p.Tyr131Cys)	rs569748582	0.00004
NM_022436.3(ABCG5):c.433C>T (p.Arg145Cys)	rs866515397	0.00004
NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala)	rs781732933	0.00004
NM_022436.3(ABCG5):c.1258G>A (p.Val420Ile)	rs747481748	0.00003
NM_022436.3(ABCG5):c.1320T>A (p.Asn440Lys)	rs150002815	0.00003
NM_022436.3(ABCG5):c.1462T>C (p.Trp488Arg)	rs1299933608	0.00003
NM_022436.3(ABCG5):c.181C>T (p.Arg61Trp)	rs766545187	0.00003
NM_022436.3(ABCG5):c.182G>A (p.Arg61Gln)	rs149599171	0.00003
NM_022436.3(ABCG5):c.1121G>C (p.Arg374Thr)	rs770254073	0.00002
NM_022436.3(ABCG5):c.1337G>A (p.Arg446Gln)	rs536081800	0.00002
NM_022436.3(ABCG5):c.599G>A (p.Arg200Gln)	rs751809765	0.00002
NM_022436.3(ABCG5):c.827C>T (p.Thr276Met)	rs368800131	0.00002
NM_022436.3(ABCG5):c.900C>G (p.Phe300Leu)	rs748009304	0.00002
NM_022436.3(ABCG5):c.1049C>T (p.Thr350Met)	rs148131742	0.00001
NM_022436.3(ABCG5):c.121C>G (p.Leu41Val)	rs1030894919	0.00001
NM_022436.3(ABCG5):c.1285G>A (p.Ala429Thr)	rs779125742	0.00001
NM_022436.3(ABCG5):c.1358G>C (p.Ser453Thr)	rs778497502	0.00001
NM_022436.3(ABCG5):c.1711T>C (p.Cys571Arg)	rs370371131	0.00001
NM_022436.3(ABCG5):c.1775T>C (p.Val592Ala)	rs777055543	0.00001
NM_022436.3(ABCG5):c.281C>G (p.Thr94Arg)	rs558993616	0.00001
NM_022436.3(ABCG5):c.2T>C (p.Met1Thr)	rs745785626	0.00001
NM_022436.3(ABCG5):c.365G>A (p.Arg122Gln)	rs555463051	0.00001
NM_022436.3(ABCG5):c.634A>G (p.Lys212Glu)	rs772952717	0.00001
NM_022436.3(ABCG5):c.642G>A (p.Met214Ile)	rs1369776473	0.00001
NM_022436.3(ABCG5):c.940C>T (p.Arg314Trp)	rs142971825	0.00001
NM_022436.3(ABCG5):c.941G>A (p.Arg314Gln)	rs544541406	0.00001
NM_022436.3(ABCG5):c.975A>G (p.Ile325Met)	rs1296464024	0.00001
NC_000002.11:g.(?_44001278)_(44209593_?)dup
NC_000002.11:g.(?_44047034)_(44047259_?)del
NM_022436.3(ABCG5):c.*357dup	rs886056027
NM_022436.3(ABCG5):c.1015T>G (p.Leu339Val)
NM_022436.3(ABCG5):c.1043T>C (p.Leu348Pro)
NM_022436.3(ABCG5):c.1082C>G (p.Ser361Cys)	rs776365033
NM_022436.3(ABCG5):c.1165C>T (p.Arg389Cys)
NM_022436.3(ABCG5):c.1180C>A (p.Leu394Met)
NM_022436.3(ABCG5):c.1188G>C (p.Met396Ile)
NM_022436.3(ABCG5):c.1189G>T (p.Gly397Cys)
NM_022436.3(ABCG5):c.1205T>C (p.Phe402Ser)
NM_022436.3(ABCG5):c.1209C>T (p.Phe403=)
NM_022436.3(ABCG5):c.1228A>G (p.Asn410Asp)	rs115590670
NM_022436.3(ABCG5):c.1255C>T (p.Arg419Cys)	rs771475759
NM_022436.3(ABCG5):c.1259T>G (p.Val420Gly)
NM_022436.3(ABCG5):c.1262G>C (p.Gly421Ala)
NM_022436.3(ABCG5):c.1271A>C (p.Tyr424Ser)
NM_022436.3(ABCG5):c.1325-2A>G	rs1241774005
NM_022436.3(ABCG5):c.1327C>T (p.Pro443Ser)
NM_022436.3(ABCG5):c.1330G>A (p.Val444Met)
NM_022436.3(ABCG5):c.1348G>C (p.Asp450His)	rs530616214
NM_022436.3(ABCG5):c.1365C>A (p.Asp455Glu)
NM_022436.3(ABCG5):c.1381T>C (p.Trp461Arg)
NM_022436.3(ABCG5):c.139G>A (p.Val47Ile)	rs72542426
NM_022436.3(ABCG5):c.1452T>G (p.Ser484Arg)
NM_022436.3(ABCG5):c.1460A>G (p.Tyr487Cys)
NM_022436.3(ABCG5):c.1514C>A (p.Ala505Asp)
NM_022436.3(ABCG5):c.1537G>C (p.Gly513Arg)	rs1418170362
NM_022436.3(ABCG5):c.158C>T (p.Pro53Leu)
NM_022436.3(ABCG5):c.1593C>A (p.Asn531Lys)
NM_022436.3(ABCG5):c.1621G>T (p.Gly541Trp)	rs142109022
NM_022436.3(ABCG5):c.1650-2A>T
NM_022436.3(ABCG5):c.1799G>A (p.Cys600Tyr)
NM_022436.3(ABCG5):c.1827T>G (p.Ile609Met)
NM_022436.3(ABCG5):c.1838G>A (p.Cys613Tyr)	rs1572735428
NM_022436.3(ABCG5):c.1846G>A (p.Ala616Thr)
NM_022436.3(ABCG5):c.1913G>A (p.Gly638Glu)
NM_022436.3(ABCG5):c.1A>G (p.Met1Val)
NM_022436.3(ABCG5):c.242T>C (p.Ile81Thr)
NM_022436.3(ABCG5):c.274A>G (p.Lys92Glu)
NM_022436.3(ABCG5):c.301G>T (p.Gly101Trp)	rs1010631695
NM_022436.3(ABCG5):c.331G>T (p.Gly111Trp)
NM_022436.3(ABCG5):c.343G>A (p.Val115Met)
NM_022436.3(ABCG5):c.402+3G>T
NM_022436.3(ABCG5):c.421A>C (p.Ser141Arg)
NM_022436.3(ABCG5):c.43C>A (p.Leu15Ile)
NM_022436.3(ABCG5):c.43C>G (p.Leu15Val)	rs372312214
NM_022436.3(ABCG5):c.43C>T (p.Leu15Phe)
NM_022436.3(ABCG5):c.451A>C (p.Thr151Pro)	rs1667962481
NM_022436.3(ABCG5):c.452C>G (p.Thr151Ser)
NM_022436.3(ABCG5):c.537T>A (p.His179Gln)
NM_022436.3(ABCG5):c.539T>A (p.Val180Glu)
NM_022436.3(ABCG5):c.595C>T (p.Arg199Cys)	rs376129056
NM_022436.3(ABCG5):c.598C>T (p.Arg200Trp)
NM_022436.3(ABCG5):c.634+6T>G	rs1397305308
NM_022436.3(ABCG5):c.656C>G (p.Pro219Arg)
NM_022436.3(ABCG5):c.676A>G (p.Met226Val)
NM_022436.3(ABCG5):c.680C>G (p.Thr227Ser)
NM_022436.3(ABCG5):c.686A>C (p.Asn229Thr)
NM_022436.3(ABCG5):c.697G>A (p.Val233Ile)
NM_022436.3(ABCG5):c.706G>C (p.Val236Leu)
NM_022436.3(ABCG5):c.718C>T (p.Arg240Cys)	rs1018070975
NM_022436.3(ABCG5):c.719G>A (p.Arg240His)
NM_022436.3(ABCG5):c.719G>T (p.Arg240Leu)
NM_022436.3(ABCG5):c.723G>T (p.Arg241Ser)
NM_022436.3(ABCG5):c.731T>C (p.Ile244Thr)
NM_022436.3(ABCG5):c.736G>A (p.Val246Ile)
NM_022436.3(ABCG5):c.757C>T (p.Arg253Cys)
NM_022436.3(ABCG5):c.761C>T (p.Ser254Phe)
NM_022436.3(ABCG5):c.805G>A (p.Gly269Arg)
NM_022436.3(ABCG5):c.82G>T (p.Ala28Ser)	rs980495592
NM_022436.3(ABCG5):c.832G>A (p.Ala278Thr)	rs1479033652
NM_022436.3(ABCG5):c.862G>T (p.Gly288Cys)	rs139264483
NM_022436.3(ABCG5):c.866A>G (p.Tyr289Cys)	rs759892269
NM_022436.3(ABCG5):c.901T>C (p.Tyr301His)
NM_022436.3(ABCG5):c.904+3_904+6del
NM_022436.3(ABCG5):c.905-3T>C
NM_022436.3(ABCG5):c.905-3dup	rs142037828
NM_022436.3(ABCG5):c.914C>T (p.Thr305Met)
NM_022436.3(ABCG5):c.922G>C (p.Asp308His)	rs767648807
NM_022436.3(ABCG5):c.962G>A (p.Arg321Lys)	rs1348348567
NM_022436.3(ABCG5):c.963A>C (p.Arg321Ser)	rs1667456050
NM_022436.3(ABCG5):c.988A>G (p.Lys330Glu)
NM_022436.3(ABCG5):c.98C>T (p.Pro33Leu)
NM_022437.3(ABCG8):c.523_531del	rs886056039
NM_022437.3(ABCG8):c.*96del	rs4148229
NM_022437.3(ABCG8):c.1210del (p.Arg404fs)	rs886056034
NM_022437.3(ABCG8):c.1226A>C (p.Asn409Thr)

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