ClinVar Miner

List of variants in gene ELP1 reported by GeneDx

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Gene type:
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Total variants: 138
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HGVS dbSNP
NC_000009.12:g.108879632_108879635del
NM_003640.5(ELP1):c.-126T>G rs2275640
NM_003640.5(ELP1):c.-17G>A rs199738099
NM_003640.5(ELP1):c.-301C>G rs2275641
NM_003640.5(ELP1):c.-31G>C
NM_003640.5(ELP1):c.-56+101G>C
NM_003640.5(ELP1):c.-59_-56+15del rs993537831
NM_003640.5(ELP1):c.-64G>A rs575166769
NM_003640.5(ELP1):c.-71G>C rs2275639
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg) rs56053149
NM_003640.5(ELP1):c.1075C>T (p.Leu359=) rs2230789
NM_003640.5(ELP1):c.1143G>A (p.Val381=) rs35936107
NM_003640.5(ELP1):c.1144G>A (p.Gly382Arg) rs776167946
NM_003640.5(ELP1):c.1190-249C>T
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359
NM_003640.5(ELP1):c.1251A>G (p.Gln417=) rs763812233
NM_003640.5(ELP1):c.1360+153C>G
NM_003640.5(ELP1):c.1360+293C>T
NM_003640.5(ELP1):c.1361-140A>G
NM_003640.5(ELP1):c.1361-23A>G
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) rs149685738
NM_003640.5(ELP1):c.1460+72A>G
NM_003640.5(ELP1):c.1461-121T>C
NM_003640.5(ELP1):c.150+145A>G
NM_003640.5(ELP1):c.150+16A>G rs148164198
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln) rs838827
NM_003640.5(ELP1):c.1644-15_1644-13del rs753571092
NM_003640.5(ELP1):c.1644-203G>A
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) rs138192941
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val) rs35455790
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg) rs879254309
NM_003640.5(ELP1):c.1750+115C>G
NM_003640.5(ELP1):c.1750+233C>G
NM_003640.5(ELP1):c.1854+283G>T
NM_003640.5(ELP1):c.1854+41C>T
NM_003640.5(ELP1):c.1855-160A>G
NM_003640.5(ELP1):c.1855-217A>G
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786
NM_003640.5(ELP1):c.1926G>A (p.Thr642=) rs10979605
NM_003640.5(ELP1):c.1965C>T (p.Thr655=) rs2230791
NM_003640.5(ELP1):c.2015-20T>C rs760415006
NM_003640.5(ELP1):c.2015-328G>A
NM_003640.5(ELP1):c.2015-71G>A
NM_003640.5(ELP1):c.2015-72C>T
NM_003640.5(ELP1):c.2025C>T (p.Ala675=) rs200532312
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp) rs201390288
NM_003640.5(ELP1):c.209G>A (p.Arg70His) rs111936933
NM_003640.5(ELP1):c.2131-113T>G
NM_003640.5(ELP1):c.2131-175C>T
NM_003640.5(ELP1):c.2204+18G>C rs115641835
NM_003640.5(ELP1):c.2204+6T>C rs111033171
NM_003640.5(ELP1):c.2205-121C>T
NM_003640.5(ELP1):c.2205-197C>T
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) rs2230792
NM_003640.5(ELP1):c.2363+159G>T
NM_003640.5(ELP1):c.2363+70A>G
NM_003640.5(ELP1):c.2394T>C (p.Pro798=) rs138819925
NM_003640.5(ELP1):c.2436C>T (p.Asp812=) rs113967847
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu) rs2230793
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met) rs2230794
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) rs767527819
NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser) rs879253977
NM_003640.5(ELP1):c.2529T>C (p.His843=) rs757233952
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003640.5(ELP1):c.2587+14C>T rs141670242
NM_003640.5(ELP1):c.2588-11_2588-10insAC
NM_003640.5(ELP1):c.2588-39A>C
NM_003640.5(ELP1):c.2588-97A>G
NM_003640.5(ELP1):c.2631C>T (p.Ala877=) rs138023874
NM_003640.5(ELP1):c.2736+304T>C
NM_003640.5(ELP1):c.2736+308A>G
NM_003640.5(ELP1):c.2737-179C>T
NM_003640.5(ELP1):c.2790T>C (p.Asn930=) rs1057521262
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003640.5(ELP1):c.2860+291T>A
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly) rs35942802
NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu) rs749200669
NM_003640.5(ELP1):c.2958+202T>C
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val) rs55658431
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795
NM_003640.5(ELP1):c.304-220C>T
NM_003640.5(ELP1):c.3160+23T>C
NM_003640.5(ELP1):c.3160+47A>T
NM_003640.5(ELP1):c.3222+113A>G
NM_003640.5(ELP1):c.3222+115A>G
NM_003640.5(ELP1):c.3222+14C>T rs374787755
NM_003640.5(ELP1):c.3222+205T>G
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397
NM_003640.5(ELP1):c.3285+9C>T rs2275495
NM_003640.5(ELP1):c.3346+110C>T
NM_003640.5(ELP1):c.3346+7G>T rs144631706
NM_003640.5(ELP1):c.3347-15A>G rs200154542
NM_003640.5(ELP1):c.3398G>A (p.Arg1133His) rs143580972
NM_003640.5(ELP1):c.3460+13G>A rs149897637
NM_003640.5(ELP1):c.3460+13G>T rs149897637
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=) rs146956297
NM_003640.5(ELP1):c.348T>C (p.Ser116=) rs2230787
NM_003640.5(ELP1):c.3572+199C>T
NM_003640.5(ELP1):c.3572+99G>A
NM_003640.5(ELP1):c.359A>G (p.Asp120Gly) rs879254229
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu) rs775972369
NM_003640.5(ELP1):c.3636G>A (p.Pro1212=) rs780520998
NM_003640.5(ELP1):c.3700+236G>A
NM_003640.5(ELP1):c.3701-124A>C
NM_003640.5(ELP1):c.3701-166T>C
NM_003640.5(ELP1):c.3701-202G>A
NM_003640.5(ELP1):c.3701-95C>G
NM_003640.5(ELP1):c.3730T>G (p.Phe1244Val) rs756928248
NM_003640.5(ELP1):c.3856-14dup rs1554737879
NM_003640.5(ELP1):c.3856-221C>A
NM_003640.5(ELP1):c.3856-54C>A
NM_003640.5(ELP1):c.3856-81G>T
NM_003640.5(ELP1):c.3856-82G>C
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) rs145319352
NM_003640.5(ELP1):c.3931+189G>A
NM_003640.5(ELP1):c.3932-185G>A
NM_003640.5(ELP1):c.441G>A (p.Gln147=) rs2230788
NM_003640.5(ELP1):c.470A>G (p.Lys157Arg) rs557686367
NM_003640.5(ELP1):c.552+133A>G
NM_003640.5(ELP1):c.552+215G>A
NM_003640.5(ELP1):c.56G>A (p.Gly19Glu) rs771715592
NM_003640.5(ELP1):c.606G>T (p.Gly202=) rs768309637
NM_003640.5(ELP1):c.650-7C>T rs368410371
NM_003640.5(ELP1):c.740+226A>G
NM_003640.5(ELP1):c.741-104TCAT[5]
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln) rs375666523
NM_003640.5(ELP1):c.819C>T (p.Leu273=) rs12340246
NM_003640.5(ELP1):c.888A>G (p.Ala296=) rs371923882
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu) rs374814563
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889
NM_003640.5(ELP1):c.958+56A>T
NM_003640.5(ELP1):c.959-118C>T
NM_003640.5(ELP1):c.959-15C>T rs112114410
NM_003640.5(ELP1):c.959-44T>G

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