ClinVar Miner

List of variants in gene S1PR2 studied for S1PR2-related disorder

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004230.4(S1PR2):c.1050C>T (p.Asn350=) rs116191851 0.02875
NM_004230.4(S1PR2):c.249C>T (p.Gly83=) rs73922357 0.00331
NM_004230.4(S1PR2):c.480G>A (p.Leu160=) rs144510483 0.00127
NM_004230.4(S1PR2):c.882C>T (p.Asp294=) rs35493500 0.00044
NM_004230.4(S1PR2):c.477G>A (p.Ser159=) rs200965528 0.00016
NM_004230.4(S1PR2):c.570T>C (p.Tyr190=) rs142570783 0.00015
NM_004230.4(S1PR2):c.919A>T (p.Arg307Trp) rs2116942

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