ClinVar Miner

List of variants in gene combination NPEPL1, STX16-NPEPL1 reported by Ambry Genetics

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_024663.4(NPEPL1):c.868G>A (p.Val290Ile) rs192450107 0.00053
NM_024663.4(NPEPL1):c.529G>A (p.Gly177Ser) rs201904128 0.00035
NM_024663.4(NPEPL1):c.532G>A (p.Val178Met) rs373363596 0.00019
NM_024663.4(NPEPL1):c.1057G>A (p.Val353Met) rs368087584 0.00018
NM_024663.4(NPEPL1):c.479A>G (p.Asn160Ser) rs372227831 0.00008
NM_024663.4(NPEPL1):c.626G>A (p.Gly209Glu) rs768829147 0.00008
NM_024663.4(NPEPL1):c.424C>T (p.Arg142Trp) rs370807734 0.00007
NM_024663.4(NPEPL1):c.274G>A (p.Ala92Thr) rs749811844 0.00005
NM_024663.4(NPEPL1):c.536G>A (p.Arg179Gln) rs202088906 0.00005
NM_024663.4(NPEPL1):c.258C>G (p.His86Gln) rs1470848062 0.00003
NM_024663.4(NPEPL1):c.1087G>A (p.Asp363Asn) rs748223622 0.00002
NM_024663.4(NPEPL1):c.1310A>T (p.Asp437Val) rs1356518105 0.00002
NM_024663.4(NPEPL1):c.553G>A (p.Val185Met) rs762835892 0.00002
NM_024663.4(NPEPL1):c.895A>G (p.Lys299Glu) rs777759745 0.00002
NM_024663.4(NPEPL1):c.1121C>T (p.Ala374Val) rs1338784611 0.00001
NM_024663.4(NPEPL1):c.1136C>T (p.Thr379Ile) rs1447320973 0.00001
NM_024663.4(NPEPL1):c.34G>A (p.Ala12Thr) rs1344293986 0.00001
NM_024663.4(NPEPL1):c.386G>A (p.Arg129Gln) rs373919841 0.00001
NM_024663.4(NPEPL1):c.569A>G (p.Asn190Ser) rs372990644 0.00001
NM_024663.4(NPEPL1):c.571G>A (p.Glu191Lys) rs752306713 0.00001
NM_024663.4(NPEPL1):c.583G>A (p.Asp195Asn) rs1325903459 0.00001
NM_024663.4(NPEPL1):c.665C>T (p.Thr222Met) rs1315496321 0.00001
NM_024663.4(NPEPL1):c.703G>A (p.Ala235Thr) rs62639982 0.00001
NM_024663.4(NPEPL1):c.1022C>T (p.Thr341Met)
NM_024663.4(NPEPL1):c.1150G>A (p.Ala384Thr)
NM_024663.4(NPEPL1):c.1154C>T (p.Ala385Val) rs745858032
NM_024663.4(NPEPL1):c.1186G>A (p.Ala396Thr)
NM_024663.4(NPEPL1):c.1222G>A (p.Val408Met)
NM_024663.4(NPEPL1):c.1307G>A (p.Arg436Gln)
NM_024663.4(NPEPL1):c.1357G>A (p.Gly453Ser)
NM_024663.4(NPEPL1):c.1372G>A (p.Gly458Arg)
NM_024663.4(NPEPL1):c.13G>T (p.Gly5Trp)
NM_024663.4(NPEPL1):c.1435G>T (p.Gly479Cys) rs190359663
NM_024663.4(NPEPL1):c.1461C>A (p.Phe487Leu) rs373873091
NM_024663.4(NPEPL1):c.1546G>A (p.Asp516Asn)
NM_024663.4(NPEPL1):c.169A>G (p.Ser57Gly) rs2084402959
NM_024663.4(NPEPL1):c.236T>A (p.Leu79Gln)
NM_024663.4(NPEPL1):c.289C>G (p.Arg97Gly)
NM_024663.4(NPEPL1):c.311C>T (p.Pro104Leu)
NM_024663.4(NPEPL1):c.334G>A (p.Val112Met) rs2084406251
NM_024663.4(NPEPL1):c.335T>C (p.Val112Ala) rs777865343
NM_024663.4(NPEPL1):c.377C>T (p.Ala126Val)
NM_024663.4(NPEPL1):c.386G>C (p.Arg129Pro)
NM_024663.4(NPEPL1):c.427C>T (p.Arg143Cys)
NM_024663.4(NPEPL1):c.428G>A (p.Arg143His)
NM_024663.4(NPEPL1):c.443C>T (p.Thr148Met)
NM_024663.4(NPEPL1):c.487G>A (p.Val163Met)
NM_024663.4(NPEPL1):c.595G>A (p.Glu199Lys)
NM_024663.4(NPEPL1):c.767C>G (p.Ala256Gly) rs1213812952
NM_024663.4(NPEPL1):c.857G>T (p.Gly286Val)
NM_024663.4(NPEPL1):c.949G>T (p.Val317Leu)

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