ClinVar Miner

List of variants in gene S1PR2 studied for Inborn genetic diseases

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_004230.4(S1PR2):c.565C>G (p.His189Asp) rs150504911 0.00030
NM_004230.4(S1PR2):c.673G>A (p.Ala225Thr) rs143046723 0.00014
NM_004230.4(S1PR2):c.944G>A (p.Arg315Gln) rs777226501 0.00007
NM_004230.4(S1PR2):c.721G>A (p.Val241Ile) rs141471894 0.00005
NM_004230.4(S1PR2):c.949C>T (p.Arg317Trp) rs376162016 0.00005
NM_004230.4(S1PR2):c.955G>A (p.Gly319Arg) rs139097585 0.00004
NM_004230.4(S1PR2):c.650G>A (p.Arg217His) rs138962414 0.00003
NM_004230.4(S1PR2):c.781G>A (p.Val261Ile) rs199824841 0.00003
NM_004230.4(S1PR2):c.80C>T (p.Thr27Met) rs376767531 0.00003
NM_004230.4(S1PR2):c.1034C>A (p.Thr345Lys) rs540296894 0.00002
NM_004230.4(S1PR2):c.107C>T (p.Ala36Val) rs747663144 0.00002
NM_004230.4(S1PR2):c.229G>A (p.Ala77Thr) rs750224099 0.00002
NM_004230.4(S1PR2):c.61A>G (p.Thr21Ala) rs1335594903 0.00002
NM_004230.4(S1PR2):c.943C>T (p.Arg315Trp) rs762437563 0.00002
NM_004230.4(S1PR2):c.380C>T (p.Ala127Val) rs1337142770 0.00001
NM_004230.4(S1PR2):c.476C>T (p.Ser159Leu) rs758826475 0.00001
NM_004230.4(S1PR2):c.529G>A (p.Glu177Lys) rs139476990 0.00001
NM_004230.4(S1PR2):c.860T>C (p.Ile287Thr) rs144903812 0.00001
NM_004230.4(S1PR2):c.877C>T (p.Arg293Trp) rs370698200 0.00001
NM_004230.4(S1PR2):c.889C>T (p.Arg297Trp) rs763068319 0.00001
NM_004230.4(S1PR2):c.95C>T (p.Ser32Phe) rs373332326 0.00001
NM_004230.4(S1PR2):c.1018A>T (p.Met340Leu) rs1243603350
NM_004230.4(S1PR2):c.102G>C (p.Gln34His) rs2039621213
NM_004230.4(S1PR2):c.1034C>T (p.Thr345Met) rs540296894
NM_004230.4(S1PR2):c.1052C>T (p.Thr351Met)
NM_004230.4(S1PR2):c.166A>C (p.Ile56Leu) rs2513960096
NM_004230.4(S1PR2):c.233C>T (p.Ser78Phe)
NM_004230.4(S1PR2):c.269C>T (p.Thr90Ile)
NM_004230.4(S1PR2):c.290C>T (p.Thr97Met) rs1431090035
NM_004230.4(S1PR2):c.344C>A (p.Thr115Lys)
NM_004230.4(S1PR2):c.344C>T (p.Thr115Met) rs979923055
NM_004230.4(S1PR2):c.444G>C (p.Met148Ile) rs2039616917
NM_004230.4(S1PR2):c.733T>G (p.Cys245Gly)
NM_004230.4(S1PR2):c.829T>C (p.Ser277Pro)
NM_004230.4(S1PR2):c.890G>C (p.Arg297Pro) rs773635875
NM_004230.4(S1PR2):c.916T>C (p.Trp306Arg) rs2513958767
NM_004230.4(S1PR2):c.986G>T (p.Arg329Leu) rs143246348

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