ClinVar Miner

List of variants in gene S1PR2 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 16
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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.642C>T (p.Cys214=) rs79482117 0.01396
NM_004230.4(S1PR2):c.30C>A (p.Asn10Lys) rs56357614 0.00821
NM_004230.4(S1PR2):c.857T>C (p.Val286Ala) rs117064827 0.00652
NM_004230.4(S1PR2):c.903G>A (p.Arg301=) rs149865919 0.00506
NM_004230.4(S1PR2):c.672C>T (p.Ala224=) rs73922356 0.00358
NM_004230.4(S1PR2):c.249C>T (p.Gly83=) rs73922357 0.00331
NM_004230.4(S1PR2):c.923C>T (p.Pro308Leu) rs200973983 0.00049
NM_004230.4(S1PR2):c.673G>A (p.Ala225Thr) rs143046723 0.00016
NM_004230.4(S1PR2):c.729C>T (p.Ile243=) rs148315102 0.00010
NM_004230.4(S1PR2):c.558C>T (p.Tyr186=) rs199954220 0.00009
NM_004230.4(S1PR2):c.955G>A (p.Gly319Arg) rs139097585 0.00004
NM_004230.4(S1PR2):c.781G>A (p.Val261Ile) rs199824841 0.00002
NM_004230.4(S1PR2):c.878G>A (p.Arg293Gln) rs376403797 0.00001
NM_004230.4(S1PR2):c.1032C>T (p.Pro344=) rs561751764
NM_004230.4(S1PR2):c.919A>C (p.Arg307=) rs2116942

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