ClinVar Miner

List of variants in gene S1PR5 reported as uncertain significance by Ambry Genetics

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_030760.5(S1PR5):c.1180G>A (p.Glu394Lys) rs139502994 0.00038
NM_030760.5(S1PR5):c.703A>G (p.Thr235Ala) rs759168775 0.00004
NM_030760.5(S1PR5):c.631C>G (p.Leu211Val) rs372680615 0.00003
NM_030760.5(S1PR5):c.67G>A (p.Gly23Ser) rs377292940 0.00003
NM_030760.5(S1PR5):c.683C>T (p.Ala228Val) rs942884799 0.00003
NM_030760.5(S1PR5):c.68G>T (p.Gly23Val) rs560472766 0.00003
NM_030760.5(S1PR5):c.29C>G (p.Pro10Arg) rs773755164 0.00002
NM_030760.5(S1PR5):c.212T>C (p.Met71Thr) rs886690346 0.00001
NM_030760.5(S1PR5):c.278T>C (p.Ile93Thr) rs2512456489 0.00001
NM_030760.5(S1PR5):c.385A>G (p.Ile129Val) rs760180493 0.00001
NM_030760.5(S1PR5):c.536T>C (p.Leu179Pro) rs745328786 0.00001
NM_030760.5(S1PR5):c.598G>C (p.Ala200Pro) rs374944848 0.00001
NM_030760.5(S1PR5):c.1073G>A (p.Gly358Glu) rs769745882
NM_030760.5(S1PR5):c.1107G>C (p.Gln369His)
NM_030760.5(S1PR5):c.1135A>C (p.Thr379Pro)
NM_030760.5(S1PR5):c.113C>A (p.Ala38Asp)
NM_030760.5(S1PR5):c.1153C>A (p.Pro385Thr)
NM_030760.5(S1PR5):c.124G>T (p.Val42Leu) rs769527790
NM_030760.5(S1PR5):c.139T>G (p.Cys47Gly) rs2512456661
NM_030760.5(S1PR5):c.211A>G (p.Met71Val)
NM_030760.5(S1PR5):c.218T>C (p.Leu73Pro)
NM_030760.5(S1PR5):c.367G>A (p.Val123Met)
NM_030760.5(S1PR5):c.411G>C (p.Met137Ile)
NM_030760.5(S1PR5):c.415C>G (p.Arg139Gly)
NM_030760.5(S1PR5):c.427G>A (p.Ala143Thr) rs775044143
NM_030760.5(S1PR5):c.440G>C (p.Ser147Thr)
NM_030760.5(S1PR5):c.449G>T (p.Arg150Leu) rs1433473685
NM_030760.5(S1PR5):c.462G>A (p.Met154Ile)
NM_030760.5(S1PR5):c.508G>T (p.Ala170Ser)
NM_030760.5(S1PR5):c.554T>C (p.Val185Ala)
NM_030760.5(S1PR5):c.644T>G (p.Ile215Ser) rs1408208100
NM_030760.5(S1PR5):c.674G>T (p.Arg225Leu)
NM_030760.5(S1PR5):c.686G>A (p.Arg229Gln) rs1243463923
NM_030760.5(S1PR5):c.773T>C (p.Leu258Pro)
NM_030760.5(S1PR5):c.784G>A (p.Ala262Thr)
NM_030760.5(S1PR5):c.820G>T (p.Asp274Tyr) rs764832448
NM_030760.5(S1PR5):c.830G>T (p.Cys277Phe) rs763804506
NM_030760.5(S1PR5):c.902T>C (p.Leu301Pro) rs146786075
NM_030760.5(S1PR5):c.959T>G (p.Leu320Arg)

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