ClinVar Miner

List of variants reported as uncertain significance for Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_016030.6(TRAPPC12):c.496C>A (p.Arg166Ser) rs758495770 0.00020
NM_016030.6(TRAPPC12):c.1597A>G (p.Arg533Gly) rs200774577 0.00004
NM_016030.6(TRAPPC12):c.1603+5G>C rs747491323 0.00001
NM_016030.6(TRAPPC12):c.2090T>C (p.Leu697Pro) rs1277040737 0.00001
NM_001144869.3(LIPT2):c.326G>A (p.Gly109Asp) rs562535449
NM_016030.6(TRAPPC12):c.1604C>T (p.Ala535Val) rs773583668
NM_016030.6(TRAPPC12):c.1693G>A (p.Val565Met)
NM_016030.6(TRAPPC12):c.1778T>G (p.Ile593Ser) rs1666353803
NM_016030.6(TRAPPC12):c.1892T>G (p.Leu631Arg) rs761982198
NM_016030.6(TRAPPC12):c.1965G>A (p.Val655=) rs1325691630
NM_016030.6(TRAPPC12):c.2071G>C (p.Glu691Gln)
NM_016030.6(TRAPPC12):c.250_258dup (p.Gly86_Arg87insAspLeuGly)
NM_016030.6(TRAPPC12):c.361G>A (p.Glu121Lys)
NM_016030.6(TRAPPC12):c.641C>T (p.Ala214Val) rs1318353446

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