ClinVar Miner

List of variants reported as likely pathogenic by Elsea Laboratory,Baylor College of Medicine

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Total variants: 15
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HGVS dbSNP
NM_000017.4(ACADS):c.934-5T>A
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000194.3(HPRT1):c.610C>G (p.His204Asp) rs137852490
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683
NM_001082971.2(DDC):c.260C>T (p.Pro87Leu)
NM_001082971.2(DDC):c.286G>A (p.Gly96Arg)
NM_004493.3(HSD17B10):c.753C>G (p.Ile251Met)
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615
NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met) rs376663560
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu)
NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe) rs767568897

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