ClinVar Miner

List of variants reported as uncertain significance for Sengers syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_018238.4(AGK):c.803C>A (p.Thr268Asn) rs142779190 0.00115
NM_018238.4(AGK):c.743A>C (p.His248Pro) rs150160397 0.00051
NM_018238.4(AGK):c.742C>T (p.His248Tyr) rs78219214 0.00021
NM_018238.4(AGK):c.764C>T (p.Thr255Met) rs112625649 0.00015
NM_018238.4(AGK):c.1052G>A (p.Arg351Gln) rs374861637 0.00010
NM_018238.4(AGK):c.445A>G (p.Ile149Val) rs113986866 0.00009
NM_018238.4(AGK):c.410G>A (p.Arg137Gln) rs770394329 0.00006
NM_018238.4(AGK):c.655G>A (p.Val219Ile) rs201584377 0.00005
NM_018238.4(AGK):c.203A>G (p.Asn68Ser) rs565745559 0.00004
NM_018238.4(AGK):c.55C>T (p.Leu19Phe) rs367844999 0.00004
NM_018238.4(AGK):c.257C>G (p.Pro86Arg) rs762680550 0.00003
NM_018238.4(AGK):c.401G>A (p.Gly134Asp) rs568195338 0.00002
NM_018238.4(AGK):c.562G>A (p.Val188Ile) rs747244579 0.00002
NM_018238.4(AGK):c.297+3A>G rs972525482 0.00001
NM_018238.4(AGK):c.511A>G (p.Lys171Glu) rs771035261 0.00001
NM_018238.4(AGK):c.880C>A (p.Leu294Ile) rs139547145 0.00001
NM_018238.4(AGK):c.881T>C (p.Leu294Pro) rs863223893 0.00001
NC_000007.13:g.(?_141255267)_(141352724_?)dup
NM_018238.4(AGK):c.1039_1044del (p.Thr347_Ile348del) rs758017978
NM_018238.4(AGK):c.1042A>G (p.Ile348Val)
NM_018238.4(AGK):c.1045G>C (p.Gly349Arg)
NM_018238.4(AGK):c.1048A>C (p.Ser350Arg)
NM_018238.4(AGK):c.1078G>A (p.Val360Met)
NM_018238.4(AGK):c.1079T>G (p.Val360Gly) rs748320721
NM_018238.4(AGK):c.1127C>T (p.Pro376Leu)
NM_018238.4(AGK):c.1132-10_1132-9del
NM_018238.4(AGK):c.1133G>A (p.Gly378Glu)
NM_018238.4(AGK):c.1154T>C (p.Ile385Thr)
NM_018238.4(AGK):c.1175C>T (p.Ala392Val)
NM_018238.4(AGK):c.1269A>G (p.Ter423Trp)
NM_018238.4(AGK):c.145T>G (p.Phe49Val)
NM_018238.4(AGK):c.173C>T (p.Ala58Val)
NM_018238.4(AGK):c.190A>G (p.Thr64Ala)
NM_018238.4(AGK):c.212C>T (p.Ala71Val)
NM_018238.4(AGK):c.222-3C>G
NM_018238.4(AGK):c.241G>A (p.Glu81Lys)
NM_018238.4(AGK):c.257C>T (p.Pro86Leu)
NM_018238.4(AGK):c.26G>C (p.Arg9Pro)
NM_018238.4(AGK):c.287C>T (p.Thr96Ile)
NM_018238.4(AGK):c.289A>G (p.Ile97Val)
NM_018238.4(AGK):c.331G>A (p.Glu111Lys)
NM_018238.4(AGK):c.331G>C (p.Glu111Gln) rs145805257
NM_018238.4(AGK):c.343A>C (p.Asn115His)
NM_018238.4(AGK):c.352G>A (p.Val118Met)
NM_018238.4(AGK):c.391-9C>G
NM_018238.4(AGK):c.420T>G (p.Asp140Glu)
NM_018238.4(AGK):c.424-3C>A
NM_018238.4(AGK):c.424-3C>T
NM_018238.4(AGK):c.424-6C>G
NM_018238.4(AGK):c.42A>G (p.Lys14=)
NM_018238.4(AGK):c.446T>C (p.Ile149Thr)
NM_018238.4(AGK):c.472A>G (p.Ser158Gly) rs888790526
NM_018238.4(AGK):c.499G>A (p.Glu167Lys)
NM_018238.4(AGK):c.542C>A (p.Ala181Asp)
NM_018238.4(AGK):c.544A>C (p.Ile182Leu) rs200104400
NM_018238.4(AGK):c.590G>A (p.Gly197Asp)
NM_018238.4(AGK):c.615A>G (p.Ala205=)
NM_018238.4(AGK):c.622G>A (p.Gly208Ser)
NM_018238.4(AGK):c.670T>C (p.Tyr224His)
NM_018238.4(AGK):c.671A>G (p.Tyr224Cys) rs1057521780
NM_018238.4(AGK):c.776A>G (p.Glu259Gly)
NM_018238.4(AGK):c.785C>T (p.Pro262Leu)
NM_018238.4(AGK):c.788A>G (p.Asn263Ser)
NM_018238.4(AGK):c.805C>A (p.Pro269Thr) rs773675584
NM_018238.4(AGK):c.80A>C (p.His27Pro)
NM_018238.4(AGK):c.80A>G (p.His27Arg)
NM_018238.4(AGK):c.874G>A (p.Asp292Asn)
NM_018238.4(AGK):c.899C>T (p.Pro300Leu)
NM_018238.4(AGK):c.901G>A (p.Glu301Lys)
NM_018238.4(AGK):c.971C>T (p.Pro324Leu)

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