ClinVar Miner

List of variants in gene ZFYVE27 studied for Spastic paraplegia

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Gene type:
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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val) rs10882993 0.74523
NM_001385875.1(ZFYVE27):c.665-20G>T rs3750614 0.61549
NM_001385875.1(ZFYVE27):c.-1G>A rs3818876 0.51770
NM_001385875.1(ZFYVE27):c.456-12C>T rs12264401 0.04525
NM_001385875.1(ZFYVE27):c.244G>A (p.Val82Ile) rs17108378 0.02833
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=) rs75060573 0.01901
NM_001385875.1(ZFYVE27):c.516C>T (p.Arg172=) rs116366646 0.00608
NM_001385875.1(ZFYVE27):c.32C>T (p.Pro11Leu) rs112316490 0.00564
NM_001385875.1(ZFYVE27):c.126C>T (p.Leu42=) rs17419023 0.00508
NM_001385875.1(ZFYVE27):c.62C>T (p.Ala21Val) rs140812293 0.00388
NM_001385875.1(ZFYVE27):c.238C>T (p.Leu80Phe) rs145356389 0.00204
NM_001385875.1(ZFYVE27):c.79C>G (p.Pro27Ala) rs34979921 0.00179
NM_001385875.1(ZFYVE27):c.876+15C>T rs202196759 0.00124
NM_001385875.1(ZFYVE27):c.269-16G>A rs117049029 0.00092
NM_001385875.1(ZFYVE27):c.522G>A (p.Leu174=) rs143515214 0.00035
NM_001385875.1(ZFYVE27):c.541G>A (p.Val181Met) rs150951341 0.00026
NM_001385875.1(ZFYVE27):c.508G>A (p.Ala170Thr) rs555051885 0.00022
NM_001385875.1(ZFYVE27):c.149A>G (p.Tyr50Cys) rs199548555 0.00016
NM_001385875.1(ZFYVE27):c.424C>T (p.Arg142Cys) rs145746084 0.00014
NM_001385875.1(ZFYVE27):c.53T>C (p.Met18Thr) rs769322350 0.00012
NM_001385875.1(ZFYVE27):c.415C>T (p.Arg139Cys) rs369972013 0.00011
NM_001385875.1(ZFYVE27):c.1236A>G (p.Ter412Trp) rs140695712 0.00006
NM_001385875.1(ZFYVE27):c.557A>G (p.Tyr186Cys) rs575306476 0.00006
NM_001385875.1(ZFYVE27):c.717A>G (p.Glu239=) rs753246302 0.00006
NM_001385875.1(ZFYVE27):c.917C>T (p.Pro306Leu) rs758158502 0.00006
NM_001385875.1(ZFYVE27):c.1091G>A (p.Arg364Gln) rs371277197 0.00005
NM_001385875.1(ZFYVE27):c.1052C>T (p.Thr351Met) rs368842487 0.00003
NM_001385875.1(ZFYVE27):c.340C>T (p.Arg114Trp) rs374171984 0.00003
NM_001385875.1(ZFYVE27):c.1172-20A>G rs777028977 0.00002
NM_001385875.1(ZFYVE27):c.242A>G (p.Asn81Ser) rs565250413 0.00002
NM_001385875.1(ZFYVE27):c.913G>A (p.Ala305Thr) rs1405750745 0.00002
NM_001385875.1(ZFYVE27):c.1022G>A (p.Arg341His) rs927949688 0.00001
NM_001385875.1(ZFYVE27):c.1042G>A (p.Gly348Arg) rs779342544 0.00001
NM_001385875.1(ZFYVE27):c.1074A>G (p.Ser358=) rs199770845 0.00001
NM_001385875.1(ZFYVE27):c.1151A>G (p.Lys384Arg) rs1032496804 0.00001
NM_001385875.1(ZFYVE27):c.157C>T (p.Pro53Ser) rs748660256 0.00001
NM_001385875.1(ZFYVE27):c.436G>A (p.Val146Met) rs746654065 0.00001
NM_001385875.1(ZFYVE27):c.538G>A (p.Val180Ile) rs751379469 0.00001
NM_001385875.1(ZFYVE27):c.552-13C>A rs200091871 0.00001
NM_001385875.1(ZFYVE27):c.639T>C (p.Phe213=) rs897824220 0.00001
NM_001385875.1(ZFYVE27):c.680G>A (p.Arg227Lys) rs2046602733 0.00001
NM_001385875.1(ZFYVE27):c.727T>C (p.Phe243Leu) rs980483998 0.00001
NM_001385875.1(ZFYVE27):c.764A>G (p.Asp255Gly) rs775345962 0.00001
NM_001385875.1(ZFYVE27):c.816G>A (p.Pro272=) rs561011837 0.00001
NM_001385875.1(ZFYVE27):c.995C>G (p.Ser332Cys) rs1442129328 0.00001
NM_001385875.1(ZFYVE27):c.998G>A (p.Arg333Gln) rs370222554 0.00001
NM_001385875.1(ZFYVE27):c.1019A>G (p.Lys340Arg)
NM_001385875.1(ZFYVE27):c.1024T>C (p.Tyr342His)
NM_001385875.1(ZFYVE27):c.1038C>T (p.Asn346=) rs929996326
NM_001385875.1(ZFYVE27):c.1042+11G>A
NM_001385875.1(ZFYVE27):c.1061C>T (p.Ser354Leu)
NM_001385875.1(ZFYVE27):c.1064C>G (p.Ala355Gly) rs2048607269
NM_001385875.1(ZFYVE27):c.1089+11G>A
NM_001385875.1(ZFYVE27):c.1089+3G>A rs556454107
NM_001385875.1(ZFYVE27):c.1159A>C (p.Met387Leu) rs1590113165
NM_001385875.1(ZFYVE27):c.1171+9T>A
NM_001385875.1(ZFYVE27):c.1211C>T (p.Ser404Leu)
NM_001385875.1(ZFYVE27):c.187T>C (p.Tyr63His)
NM_001385875.1(ZFYVE27):c.18T>C (p.Arg6=)
NM_001385875.1(ZFYVE27):c.198-1G>A
NM_001385875.1(ZFYVE27):c.234G>C (p.Leu78=)
NM_001385875.1(ZFYVE27):c.290C>T (p.Ala97Val)
NM_001385875.1(ZFYVE27):c.315G>C (p.Leu105=)
NM_001385875.1(ZFYVE27):c.341G>A (p.Arg114Gln)
NM_001385875.1(ZFYVE27):c.360C>G (p.Ser120=)
NM_001385875.1(ZFYVE27):c.367A>T (p.Met123Leu)
NM_001385875.1(ZFYVE27):c.416G>C (p.Arg139Pro)
NM_001385875.1(ZFYVE27):c.456-18A>C
NM_001385875.1(ZFYVE27):c.49G>A (p.Val17Met)
NM_001385875.1(ZFYVE27):c.661del (p.Arg221fs)
NM_001385875.1(ZFYVE27):c.662G>A (p.Arg221Gln)
NM_001385875.1(ZFYVE27):c.720G>A (p.Glu240=)
NM_001385875.1(ZFYVE27):c.736C>T (p.Pro246Ser)
NM_001385875.1(ZFYVE27):c.787G>A (p.Ala263Thr) rs2136198619
NM_001385875.1(ZFYVE27):c.804+1G>C rs369834453
NM_001385875.1(ZFYVE27):c.805-27C>T
NM_001385875.1(ZFYVE27):c.894G>A (p.Val298=)
NM_001385875.1(ZFYVE27):c.897+12C>G
NM_001385875.1(ZFYVE27):c.897+19G>A
NM_001385875.1(ZFYVE27):c.909G>A (p.Glu303=) rs753887094
NM_001385875.1(ZFYVE27):c.953A>G (p.Asn318Ser)

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