ClinVar Miner

List of variants reported as likely benign for Familial dysautonomia by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798 0.01592
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_003640.5(ELP1):c.2631C>T (p.Ala877=) rs138023874 0.00791
NM_003640.5(ELP1):c.2204+18G>C rs115641835 0.00213
NM_003640.5(ELP1):c.1143G>A (p.Val381=) rs35936107 0.00210
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319 0.00203
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) rs149685738 0.00084
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile) rs143723093 0.00084
NM_003640.5(ELP1):c.3347-15A>G rs200154542 0.00073
NM_003640.5(ELP1):c.-22G>T rs150608921 0.00051
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889 0.00043
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371 0.00038
NM_003640.5(ELP1):c.909C>G (p.Val303=) rs142420285 0.00038
NM_003640.5(ELP1):c.2436C>T (p.Asp812=) rs113967847 0.00036
NM_003640.5(ELP1):c.3701-6C>G rs148535504 0.00025
NM_003640.5(ELP1):c.1878C>T (p.Asp626=) rs141596257 0.00021
NM_003640.5(ELP1):c.1075C>T (p.Leu359=) rs2230789 0.00018
NM_003640.5(ELP1):c.2916C>T (p.Asn972=) rs752886385 0.00018
NM_003640.5(ELP1):c.3477C>T (p.His1159=) rs141257064 0.00016
NM_003640.5(ELP1):c.1830C>T (p.Thr610=) rs113048987 0.00014
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) rs3737311 0.00014
NM_003640.5(ELP1):c.348T>C (p.Ser116=) rs2230787 0.00014
NM_003640.5(ELP1):c.-64G>A rs575166769 0.00013
NM_003640.5(ELP1):c.2205-7C>T rs148221146 0.00012
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) rs138192941 0.00011
NM_003640.5(ELP1):c.3750A>G (p.Glu1250=) rs149038322 0.00010
NM_003640.5(ELP1):c.304-7G>A rs374063549 0.00008
NM_003640.5(ELP1):c.1599A>G (p.Ala533=) rs771318456 0.00007
NM_003640.5(ELP1):c.2769A>G (p.Thr923=) rs370330097 0.00007
NM_003640.5(ELP1):c.3219C>A (p.Ala1073=) rs371960059 0.00007
NM_003640.5(ELP1):c.2982G>A (p.Glu994=) rs147870527 0.00006
NM_003640.5(ELP1):c.2799G>A (p.Arg933=) rs367974002 0.00005
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=) rs766875245 0.00005
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys) rs184739734 0.00005
NM_003640.5(ELP1):c.1536C>T (p.Asp512=) rs751808911 0.00004
NM_003640.5(ELP1):c.1860T>C (p.Cys620=) rs769936175 0.00004
NM_003640.5(ELP1):c.3045C>T (p.His1015=) rs772697433 0.00004
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=) rs746303238 0.00004
NM_003640.5(ELP1):c.3561C>T (p.Ser1187=) rs781284578 0.00004
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg) rs56053149 0.00003
NM_003640.5(ELP1):c.1834T>C (p.Leu612=) rs768084021 0.00003
NM_003640.5(ELP1):c.2097T>C (p.Thr699=) rs144352068 0.00003
NM_003640.5(ELP1):c.423G>A (p.Glu141=) rs567960748 0.00003
NM_003640.5(ELP1):c.579C>T (p.Asp193=) rs766231058 0.00003
NM_003640.5(ELP1):c.1491T>C (p.Asp497=) rs775020540 0.00002
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=) rs372541751 0.00002
NM_003640.5(ELP1):c.1284A>T (p.Thr428=) rs946387194 0.00001
NM_003640.5(ELP1):c.1320T>A (p.Ala440=) rs745616203 0.00001
NM_003640.5(ELP1):c.2031G>C (p.Leu677=) rs1315300646 0.00001
NM_003640.5(ELP1):c.2394T>C (p.Pro798=) rs138819925 0.00001
NM_003640.5(ELP1):c.2454T>C (p.Leu818=) rs893395625 0.00001
NM_003640.5(ELP1):c.2529T>C (p.His843=) rs757233952 0.00001
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) rs773218149 0.00001
NM_003640.5(ELP1):c.273C>T (p.Asp91=) rs772231917 0.00001
NM_003640.5(ELP1):c.3153T>A (p.Thr1051=) rs1315617472 0.00001
NM_003640.5(ELP1):c.3183G>A (p.Lys1061=) rs544766218 0.00001
NM_003640.5(ELP1):c.3636G>A (p.Pro1212=) rs780520998 0.00001
NM_003640.5(ELP1):c.3714T>C (p.His1238=) rs749975442 0.00001
NM_003640.5(ELP1):c.3819T>C (p.Ile1273=) rs201242444 0.00001
NM_003640.5(ELP1):c.3918G>A (p.Ser1306=) rs146862778 0.00001
NM_003640.5(ELP1):c.888A>G (p.Ala296=) rs371923882 0.00001
NM_003640.5(ELP1):c.959-8C>T rs766511916 0.00001
NM_003640.5(ELP1):c.-17G>A rs199738099
NM_003640.5(ELP1):c.1563G>A (p.Glu521=) rs969266362
NM_003640.5(ELP1):c.1957T>C (p.Leu653=) rs542412132
NM_003640.5(ELP1):c.2359T>C (p.Leu787=) rs931451775
NM_003640.5(ELP1):c.2826A>T (p.Arg942=) rs780726202
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=) rs779796058
NM_003640.5(ELP1):c.3711C>T (p.Tyr1237=) rs1564070677
NM_003640.5(ELP1):c.3855+9T>G rs533673443
NM_003640.5(ELP1):c.3975G>A (p.Gln1325=) rs1235352918
NM_003640.5(ELP1):c.650-6G>A rs571466270
NM_003640.5(ELP1):c.78C>T (p.Leu26=) rs1164162179

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