ClinVar Miner

List of variants in gene SGPL1 studied for Inborn genetic diseases

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_003901.4(SGPL1):c.1067A>G (p.Tyr356Cys) rs147860288 0.00035
NM_003901.4(SGPL1):c.769G>T (p.Val257Leu) rs373068535 0.00025
NM_003901.4(SGPL1):c.1422G>C (p.Leu474Phe) rs151062610 0.00013
NM_003901.4(SGPL1):c.1366C>T (p.Arg456Cys) rs778595060 0.00011
NM_003901.4(SGPL1):c.205A>G (p.Arg69Gly) rs143418396 0.00003
NM_003901.4(SGPL1):c.406A>T (p.Met136Leu) rs367644111 0.00003
NM_003901.4(SGPL1):c.1401G>A (p.Met467Ile) rs374732188 0.00002
NM_003901.4(SGPL1):c.590A>G (p.Asn197Ser) rs532619672 0.00002
NM_003901.4(SGPL1):c.1544C>G (p.Pro515Arg) rs775843810 0.00001
NM_003901.4(SGPL1):c.1609A>G (p.Met537Val) rs968498243 0.00001
NM_003901.4(SGPL1):c.1633T>C (p.Phe545Leu) rs187774693 0.00001
NM_003901.4(SGPL1):c.317T>C (p.Leu106Pro) rs1845937874 0.00001
NM_003901.4(SGPL1):c.334T>C (p.Tyr112His) rs1331309479 0.00001
NM_003901.4(SGPL1):c.785C>T (p.Thr262Met) rs763306712 0.00001
NM_003901.4(SGPL1):c.808C>T (p.Arg270Trp) rs779933081 0.00001
NM_003901.4(SGPL1):c.888T>A (p.Asp296Glu) rs769780099 0.00001
NM_003901.4(SGPL1):c.1051A>G (p.Thr351Ala) rs2492801166
NM_003901.4(SGPL1):c.1052C>T (p.Thr351Ile)
NM_003901.4(SGPL1):c.110A>G (p.Tyr37Cys)
NM_003901.4(SGPL1):c.1146G>T (p.Trp382Cys) rs2492804135
NM_003901.4(SGPL1):c.1229A>G (p.His410Arg)
NM_003901.4(SGPL1):c.1320C>G (p.Ile440Met)
NM_003901.4(SGPL1):c.1333A>G (p.Asn445Asp) rs776862757
NM_003901.4(SGPL1):c.146G>A (p.Trp49Ter)
NM_003901.4(SGPL1):c.1474G>T (p.Ala492Ser) rs115923151
NM_003901.4(SGPL1):c.1513C>G (p.Arg505Gly)
NM_003901.4(SGPL1):c.1702C>T (p.His568Tyr)
NM_003901.4(SGPL1):c.265C>A (p.Gln89Lys)
NM_003901.4(SGPL1):c.328A>G (p.Lys110Glu) rs1404234630
NM_003901.4(SGPL1):c.349C>G (p.Pro117Ala)
NM_003901.4(SGPL1):c.349C>T (p.Pro117Ser)
NM_003901.4(SGPL1):c.412G>T (p.Ala138Ser) rs781192882
NM_003901.4(SGPL1):c.47T>C (p.Leu16Ser)
NM_003901.4(SGPL1):c.514C>G (p.Pro172Ala) rs776063375
NM_003901.4(SGPL1):c.514C>T (p.Pro172Ser) rs776063375
NM_003901.4(SGPL1):c.717A>C (p.Gln239His)
NM_003901.4(SGPL1):c.731C>T (p.Ala244Val) rs2492795376
NM_003901.4(SGPL1):c.746C>T (p.Ala249Val)
NM_003901.4(SGPL1):c.775G>A (p.Val259Ile)
NM_003901.4(SGPL1):c.970G>A (p.Val324Ile)

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