List of variants in gene LEPR studied for nutritional disorder

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: 83

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HGVS	dbSNP	gnomAD frequency
NM_002303.6(LEPR):c.370+16G>T	rs2186248	0.99964
NM_002303.6(LEPR):c.668A>G (p.Gln223Arg)	rs1137101	0.50085
NM_002303.6(LEPR):c.3057G>A (p.Pro1019=)	rs1805096	0.43140
NM_002303.6(LEPR):c.326A>G (p.Lys109Arg)	rs1137100	0.25399
NM_002303.6(LEPR):c.1029T>C (p.Ser343=)	rs1805134	0.23693
NM_002303.6(LEPR):c.2597+15G>C	rs6693573	0.01870
NM_002303.6(LEPR):c.3024A>G (p.Ser1008=)	rs6413506	0.01632
NM_002303.6(LEPR):c.*232G>A	rs116819844	0.01407
NM_002303.6(LEPR):c.2958C>T (p.Tyr986=)	rs1805095	0.00643
NM_002303.6(LEPR):c.-20-15A>T	rs116571599	0.00451
NM_002303.6(LEPR):c.36T>C (p.His12=)	rs147768538	0.00286
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=)	rs61781316	0.00257
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly)	rs35573508	0.00192
NM_002303.6(LEPR):c.*403T>C	rs375886561	0.00185
NM_002303.6(LEPR):c.594G>A (p.Val198=)	rs140347630	0.00072
NM_002303.6(LEPR):c.2260G>A (p.Val754Met)	rs150936702	0.00071
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr)	rs145685060	0.00069
NM_002303.6(LEPR):c.2918C>A (p.Thr973Asn)	rs142143966	0.00055
NM_002303.6(LEPR):c.3078T>C (p.Asn1026=)	rs34130975	0.00054
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr)	rs144710810	0.00043
NM_002303.6(LEPR):c.2674-5935A>C	rs551017633	0.00042
NM_002303.6(LEPR):c.1835G>A (p.Arg612His)	rs144159890	0.00036
NM_002303.6(LEPR):c.*153A>G	rs147380894	0.00034
NM_002303.6(LEPR):c.*453C>T	rs191470560	0.00030
NM_002303.6(LEPR):c.2698A>G (p.Ile900Val)	rs142647085	0.00029
NM_002303.6(LEPR):c.*99A>G	rs529659801	0.00028
NM_002303.6(LEPR):c.1030G>A (p.Val344Ile)	rs145668112	0.00026
NM_002303.6(LEPR):c.611A>G (p.Lys204Arg)	rs146442768	0.00023
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys)	rs145651189	0.00020
NM_002303.6(LEPR):c.1411C>A (p.Leu471Ile)	rs143319015	0.00014
NM_002303.6(LEPR):c.3423C>T (p.Tyr1141=)	rs193922651	0.00014
NM_002303.6(LEPR):c.2370A>C (p.Ser790=)	rs13306528	0.00013
NM_002303.6(LEPR):c.*251G>T	rs1032178127	0.00009
NM_002303.6(LEPR):c.*287G>C	rs974484944	0.00009
NM_002303.6(LEPR):c.1166G>A (p.Ser389Asn)	rs780534740	0.00006
NM_002303.6(LEPR):c.1040A>G (p.Asn347Ser)	rs200240836	0.00004
NM_002303.6(LEPR):c.1635A>G (p.Ala545=)	rs199507516	0.00004
NM_002303.6(LEPR):c.345A>G (p.Val115=)	rs773805917	0.00004
NM_002303.6(LEPR):c.1374G>A (p.Ala458=)	rs768308728	0.00003
NM_002303.6(LEPR):c.2221G>A (p.Val741Met)	rs532294036	0.00003
NM_002303.6(LEPR):c.704-8T>C	rs183928195	0.00003
NM_002303.6(LEPR):c.1018A>G (p.Ile340Val)	rs753573139	0.00002
NM_002303.6(LEPR):c.1701C>T (p.Asn567=)	rs2228301	0.00002
NM_002303.6(LEPR):c.536G>A (p.Gly179Asp)	rs151190195	0.00002
NM_002303.6(LEPR):c.691C>T (p.Pro231Ser)	rs776647803	0.00002
NM_002303.6(LEPR):c.1299T>C (p.Asn433=)	rs140137775	0.00001
NM_002303.6(LEPR):c.299C>G (p.Ser100Cys)	rs1297438423	0.00001
NM_002303.6(LEPR):c.3041C>G (p.Ser1014Cys)	rs563763692	0.00001
NM_002303.6(LEPR):c.3437A>T (p.Gln1146Leu)	rs779463781	0.00001
NM_002303.6(LEPR):c.371-9T>A	rs1253993053	0.00001
NM_002303.6(LEPR):c.666C>G (p.Phe222Leu)	rs886046503	0.00001
NM_002303.6(LEPR):c.921G>C (p.Gln307His)	rs531183918	0.00001
NM_002303.5(LEPR):c.-186C>T	rs1646225829
NM_002303.6(LEPR):c.*112T>C	rs886046506
NM_002303.6(LEPR):c.*188A>C	rs886046507
NM_002303.6(LEPR):c.*201C>T	rs577287309
NM_002303.6(LEPR):c.*346CA[8]	rs10552268
NM_002303.6(LEPR):c.*48G>C	rs987448071
NM_002303.6(LEPR):c.60_61insCTTTA	rs75054066
NM_002303.6(LEPR):c.1012C>A (p.Pro338Thr)
NM_002303.6(LEPR):c.1157A>G (p.Asp386Gly)	rs1364613256
NM_002303.6(LEPR):c.133_136dup (p.Tyr46Ter)	rs757358893
NM_002303.6(LEPR):c.1341C>T (p.Cys447=)	rs1656463888
NM_002303.6(LEPR):c.1413T>A (p.Leu471=)	rs1656724477
NM_002303.6(LEPR):c.1752+1G>A
NM_002303.6(LEPR):c.1967dup (p.Glu657fs)
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn)	rs1805094
NM_002303.6(LEPR):c.2397T>G (p.Asp799Glu)	rs746887338
NM_002303.6(LEPR):c.2597+1G>A	rs1474810899
NM_002303.6(LEPR):c.260T>C (p.Phe87Ser)	rs891183270
NM_002303.6(LEPR):c.2880C>G (p.Asn960Lys)	rs193922650
NM_002303.6(LEPR):c.2970C>G (p.Ile990Met)	rs751719702
NM_002303.6(LEPR):c.3114A>G (p.Ile1038Met)	rs886046505
NM_002303.6(LEPR):c.3240A>C (p.Leu1080Phe)
NM_002303.6(LEPR):c.3268_3269dup (p.Ser1090fs)	rs1553174844
NM_002303.6(LEPR):c.346A>C (p.Asn116His)
NM_002303.6(LEPR):c.421A>G (p.Ile141Val)
NM_002303.6(LEPR):c.464A>C (p.Tyr155Ser)	rs1557670950
NM_002303.6(LEPR):c.495-2927T>G
NM_002303.6(LEPR):c.716C>T (p.Pro239Leu)	rs886046504
NM_002303.6(LEPR):c.806A>G (p.Tyr269Cys)	rs996361966
NM_002303.6(LEPR):c.976C>T (p.Arg326Cys)
Single allele

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