ClinVar Miner

List of variants in gene ENTPD1 studied for Hereditary spastic paraplegia

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001776.6(ENTPD1):c.877G>A (p.Val293Ile) rs3793744 0.01729
NM_001776.5(ENTPD1):c.-86A>C rs75902129 0.00179
NM_001776.6(ENTPD1):c.1020C>T (p.Tyr340=) rs149326648 0.00085
NM_001776.6(ENTPD1):c.25G>A (p.Val9Met) rs150772804 0.00059
NM_001776.6(ENTPD1):c.1333G>C (p.Gly445Arg) rs145994698 0.00046
NM_001776.6(ENTPD1):c.1149T>A (p.Thr383=) rs779049792 0.00019
NM_001776.6(ENTPD1):c.424G>C (p.Glu142Gln) rs148809600 0.00017
NM_001776.6(ENTPD1):c.1479C>G (p.Ile493Met) rs146889178 0.00016
NM_001776.6(ENTPD1):c.834C>T (p.Leu278=) rs780370619 0.00014
NM_001776.6(ENTPD1):c.920T>A (p.Met307Lys) rs373236811 0.00009
NM_001776.6(ENTPD1):c.1338C>T (p.Ser446=) rs139646807 0.00004
NM_001776.6(ENTPD1):c.376G>A (p.Val126Ile) rs149992374 0.00003
NM_001776.6(ENTPD1):c.691G>A (p.Glu231Lys) rs754284810 0.00002
NM_001776.6(ENTPD1):c.1026G>A (p.Gln342=) rs553887215 0.00001
NM_001776.6(ENTPD1):c.1289C>T (p.Thr430Ile) rs758827298 0.00001
NM_001776.6(ENTPD1):c.139G>A (p.Val47Ile) rs771708732 0.00001
NM_001776.6(ENTPD1):c.1411C>G (p.Pro471Ala) rs1173015974 0.00001
NM_001776.6(ENTPD1):c.*6948del rs2141032994
NM_001776.6(ENTPD1):c.1110A>T (p.Leu370Phe) rs2140974452
NM_001776.6(ENTPD1):c.1119A>G (p.Thr373=) rs772314516
NM_001776.6(ENTPD1):c.1494C>T (p.Ile498=) rs565508317

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