ClinVar Miner

List of variants reported as likely benign for Hereditary spastic paraplegia 64

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001776.6(ENTPD1):c.1075-15G>A rs373805682 0.00027
NM_001776.6(ENTPD1):c.1479C>G (p.Ile493Met) rs146889178 0.00016
NM_001776.6(ENTPD1):c.972A>G (p.Gln324=) rs376745066 0.00015
NM_001776.6(ENTPD1):c.834C>T (p.Leu278=) rs780370619 0.00014
NM_001776.6(ENTPD1):c.1338C>T (p.Ser446=) rs139646807 0.00004
NM_001776.6(ENTPD1):c.24C>T (p.Asn8=) rs368856010 0.00004
NM_001776.6(ENTPD1):c.262+9A>G rs371120547 0.00004
NM_001776.6(ENTPD1):c.814-6A>G rs549511254 0.00004
NM_001776.6(ENTPD1):c.1254C>T (p.Tyr418=) rs759450413 0.00003
NM_001776.6(ENTPD1):c.39C>T (p.Cys13=) rs766814208 0.00003
NM_001776.6(ENTPD1):c.1189-17C>T rs750828209 0.00002
NM_001776.6(ENTPD1):c.1251C>T (p.Thr417=) rs774254302 0.00002
NM_001776.6(ENTPD1):c.1065G>T (p.Gly355=) rs779604340 0.00001
NM_001776.6(ENTPD1):c.1146G>T (p.Val382=) rs371715493 0.00001
NM_001776.6(ENTPD1):c.1356G>A (p.Leu452=) rs372922890 0.00001
NM_001776.6(ENTPD1):c.684G>A (p.Gln228=) rs1337866354 0.00001
NM_001776.6(ENTPD1):c.1074+15T>C
NM_001776.6(ENTPD1):c.1075-16C>T
NM_001776.6(ENTPD1):c.1086T>C (p.Ala362=)
NM_001776.6(ENTPD1):c.1185G>A (p.Glu395=)
NM_001776.6(ENTPD1):c.1197A>G (p.Thr399=)
NM_001776.6(ENTPD1):c.1203C>T (p.Tyr401=)
NM_001776.6(ENTPD1):c.1227G>A (p.Leu409=)
NM_001776.6(ENTPD1):c.1326+14C>A
NM_001776.6(ENTPD1):c.1326+16G>T
NM_001776.6(ENTPD1):c.1326+7del rs756840545
NM_001776.6(ENTPD1):c.1326+9G>A
NM_001776.6(ENTPD1):c.1327-13C>T
NM_001776.6(ENTPD1):c.1344C>T (p.Ala448=)
NM_001776.6(ENTPD1):c.1362C>T (p.Tyr454=)
NM_001776.6(ENTPD1):c.138C>T (p.Asn46=)
NM_001776.6(ENTPD1):c.1449A>G (p.Leu483=)
NM_001776.6(ENTPD1):c.145-11G>A
NM_001776.6(ENTPD1):c.145-13G>A
NM_001776.6(ENTPD1):c.1455C>T (p.Ser485=)
NM_001776.6(ENTPD1):c.1503G>A (p.Lys501=)
NM_001776.6(ENTPD1):c.16+13T>C rs766973012
NM_001776.6(ENTPD1):c.165G>C (p.Ala55=) rs377317244
NM_001776.6(ENTPD1):c.17-13C>T
NM_001776.6(ENTPD1):c.17-16C>T
NM_001776.6(ENTPD1):c.189C>T (p.Tyr63=)
NM_001776.6(ENTPD1):c.228C>T (p.Gly76=)
NM_001776.6(ENTPD1):c.262+17G>A rs1403275794
NM_001776.6(ENTPD1):c.393G>A (p.Thr131=)
NM_001776.6(ENTPD1):c.405G>T (p.Arg135=) rs2140831910
NM_001776.6(ENTPD1):c.414-11_414-8del
NM_001776.6(ENTPD1):c.414-13T>C
NM_001776.6(ENTPD1):c.414-17G>T
NM_001776.6(ENTPD1):c.414-6G>A rs1214012122
NM_001776.6(ENTPD1):c.414-6G>T
NM_001776.6(ENTPD1):c.573+16C>T
NM_001776.6(ENTPD1):c.574-20G>A
NM_001776.6(ENTPD1):c.690C>T (p.Ile230=)
NM_001776.6(ENTPD1):c.858A>G (p.Gly286=)
NM_001776.6(ENTPD1):c.876C>T (p.Asn292=)
NM_001776.6(ENTPD1):c.915T>C (p.Phe305=)
NM_001776.6(ENTPD1):c.978T>C (p.His326=)

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