ClinVar Miner

List of variants in gene TMEM63A studied for leukodystrophy, hypomyelinating, 19, transient infantile

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_014698.3(TMEM63A):c.1378-49C>T rs9919303 0.34459
NM_014698.3(TMEM63A):c.507C>T (p.Asp169=) rs2292564 0.33578
NM_014698.3(TMEM63A):c.1049C>A (p.Ala350Asp)
NM_014698.3(TMEM63A):c.1086-48del rs3215221
NM_014698.3(TMEM63A):c.1385T>A (p.Ile462Asn) rs1576080546
NM_014698.3(TMEM63A):c.1571+3A>G
NM_014698.3(TMEM63A):c.1657G>T (p.Gly553Cys)
NM_014698.3(TMEM63A):c.1658G>A (p.Gly553Asp)
NM_014698.3(TMEM63A):c.1675T>C (p.Tyr559His) rs2102825771
NM_014698.3(TMEM63A):c.1699G>A (p.Gly567Ser) rs1576074651
NM_014698.3(TMEM63A):c.2009A>G (p.Gln670Arg) rs2102815944
NM_014698.3(TMEM63A):c.2072G>A (p.Gly691Asp)
NM_014698.3(TMEM63A):c.214AGA[2] (p.Arg74del)
NM_014698.3(TMEM63A):c.2257G>A (p.Val753Met)
NM_014698.3(TMEM63A):c.503G>A (p.Gly168Glu) rs1576101665
NM_014698.3(TMEM63A):c.598G>A (p.Ala200Thr) rs2102629480
NM_014698.3(TMEM63A):c.887G>A (p.Arg296Gln)

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