List of variants reported as likely pathogenic for Sengers syndrome

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NC_000007.13:g.(?_141292926)_(141293005_?)dup
NM_018238.4(AGK):c.1047-2A>T	rs886041491
NM_018238.4(AGK):c.1131+2T>C	rs1797560612
NM_018238.4(AGK):c.1150_1154del (p.Phe383_Ser384insTer)
NM_018238.4(AGK):c.1211_1237del (p.Leu404_Lys412del)	rs1554405947
NM_018238.4(AGK):c.1215dup (p.Phe406fs)	rs1587181981
NM_018238.4(AGK):c.390+1G>A	rs777096695
NM_018238.4(AGK):c.390G>A (p.Glu130=)	rs771375243
NM_018238.4(AGK):c.424-3C>G	rs766413410
NM_018238.4(AGK):c.519-1G>A
NM_018238.4(AGK):c.519-2A>G
NM_018238.4(AGK):c.523_524del (p.Ile175fs)	rs1228071168
NM_018238.4(AGK):c.72G>A (p.Trp24Ter)	rs1587053244
NM_018238.4(AGK):c.877+2T>G	rs1587162871

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