ClinVar Miner

List of variants in gene SMPD4 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_017951.5(SMPD4):c.189C>T (p.Leu63=) rs41269839 0.00488
NM_017951.5(SMPD4):c.1289+8T>G rs200865582 0.00279
NM_017951.5(SMPD4):c.270-8G>A rs2443637 0.00153
NM_017951.5(SMPD4):c.570G>A (p.Arg190=) rs143450222 0.00047
NM_017951.5(SMPD4):c.-106C>A
NM_017951.5(SMPD4):c.-75C>T
NM_017951.5(SMPD4):c.1056C>T (p.Ser352=)
NM_017951.5(SMPD4):c.1068C>T (p.His356=)
NM_017951.5(SMPD4):c.1098-98C>T
NM_017951.5(SMPD4):c.1173C>T (p.Asp391=)
NM_017951.5(SMPD4):c.1386C>T (p.His462=)
NM_017951.5(SMPD4):c.1487del (p.Ile496fs) rs2104803174
NM_017951.5(SMPD4):c.1575C>T (p.Ser525=)
NM_017951.5(SMPD4):c.1644C>T (p.Pro548=)
NM_017951.5(SMPD4):c.1710C>T (p.Ser570=)
NM_017951.5(SMPD4):c.2068del (p.Asp690fs)
NM_017951.5(SMPD4):c.2121A>G (p.Thr707=)
NM_017951.5(SMPD4):c.2301C>T (p.Pro767=)
NM_017951.5(SMPD4):c.2325C>T (p.Gly775=)
NM_017951.5(SMPD4):c.2364C>T (p.Phe788=)
NM_017951.5(SMPD4):c.2457C>T (p.Thr819=)
NM_017951.5(SMPD4):c.321C>T (p.Phe107=)
NM_017951.5(SMPD4):c.654T>A (p.Pro218=)

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