ClinVar Miner

List of variants in gene PUS7L

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_031292.5(PUS7L):c.2044G>A (p.Asp682Asn) rs143864622 0.00101
NM_031292.5(PUS7L):c.923G>T (p.Arg308Leu) rs145814117 0.00040
NM_031292.5(PUS7L):c.1540G>A (p.Gly514Ser) rs138341958 0.00036
NM_031292.5(PUS7L):c.833T>G (p.Val278Gly) rs147689391 0.00013
NM_031292.5(PUS7L):c.1578G>A (p.Met526Ile) rs141654642 0.00012
NM_031292.5(PUS7L):c.1939C>T (p.His647Tyr) rs144025245 0.00010
NM_031292.5(PUS7L):c.250A>G (p.Arg84Gly) rs373367602 0.00010
NM_031292.5(PUS7L):c.518C>A (p.Ala173Asp) rs201122908 0.00010
NM_031292.5(PUS7L):c.1777C>G (p.Gln593Glu) rs200877231 0.00009
NM_031292.5(PUS7L):c.2047C>T (p.Leu683Phe) rs769791249 0.00008
NM_031292.5(PUS7L):c.356A>G (p.Glu119Gly) rs142482082 0.00007
NM_031292.5(PUS7L):c.815C>T (p.Pro272Leu) rs745790601 0.00006
NM_031292.5(PUS7L):c.107T>C (p.Val36Ala) rs774234736 0.00004
NM_031292.5(PUS7L):c.1519C>T (p.Arg507Cys) rs189799390 0.00004
NM_031292.5(PUS7L):c.766C>T (p.Leu256Phe) rs138208104 0.00004
NM_031292.5(PUS7L):c.106G>A (p.Val36Ile) rs202236380 0.00003
NM_031292.5(PUS7L):c.1291C>T (p.Pro431Ser) rs773878975 0.00003
NM_031292.5(PUS7L):c.1453A>G (p.Lys485Glu) rs1027254010 0.00002
NM_031292.5(PUS7L):c.1649A>G (p.Tyr550Cys) rs779403105 0.00002
NM_031292.5(PUS7L):c.1891C>T (p.Pro631Ser) rs377179643 0.00002
NM_031292.5(PUS7L):c.490G>A (p.Gly164Ser) rs748795228 0.00002
NM_031292.5(PUS7L):c.1097A>T (p.Glu366Val) rs1938164876 0.00001
NM_031292.5(PUS7L):c.1283A>T (p.Tyr428Phe) rs771726514 0.00001
NM_031292.5(PUS7L):c.141T>G (p.Asn47Lys) rs1003711022 0.00001
NM_031292.5(PUS7L):c.1517A>C (p.His506Pro) rs765877454 0.00001
NM_031292.5(PUS7L):c.1636A>G (p.Arg546Gly) rs181203993 0.00001
NM_031292.5(PUS7L):c.1829T>A (p.Val610Glu) rs765488669 0.00001
NM_031292.5(PUS7L):c.1922A>G (p.Tyr641Cys) rs1944528273 0.00001
NM_031292.5(PUS7L):c.273G>C (p.Leu91Phe) rs370195483 0.00001
NM_031292.5(PUS7L):c.332T>C (p.Ile111Thr) rs752719418 0.00001
NM_031292.5(PUS7L):c.404A>C (p.Glu135Ala) rs751494170 0.00001
NM_031292.5(PUS7L):c.517G>A (p.Ala173Thr) rs781032884 0.00001
NM_031292.5(PUS7L):c.542A>G (p.Gln181Arg) rs1406445680 0.00001
NM_031292.5(PUS7L):c.673A>G (p.Lys225Glu) rs1355111354 0.00001
NM_031292.5(PUS7L):c.786T>G (p.Phe262Leu) rs751831105 0.00001
NM_031292.5(PUS7L):c.859C>T (p.Arg287Cys) rs757386970 0.00001
NM_031292.5(PUS7L):c.1235G>T (p.Arg412Ile)
NM_031292.5(PUS7L):c.1269A>T (p.Lys423Asn) rs2540307386
NM_031292.5(PUS7L):c.1279A>G (p.Asn427Asp)
NM_031292.5(PUS7L):c.128G>T (p.Gly43Val)
NM_031292.5(PUS7L):c.1312A>T (p.Arg438Trp)
NM_031292.5(PUS7L):c.1412T>C (p.Val471Ala)
NM_031292.5(PUS7L):c.1430A>G (p.Tyr477Cys)
NM_031292.5(PUS7L):c.151G>A (p.Asp51Asn) rs199994161
NM_031292.5(PUS7L):c.1576A>G (p.Met526Val) rs745605909
NM_031292.5(PUS7L):c.1577T>C (p.Met526Thr)
NM_031292.5(PUS7L):c.1584A>G (p.Ile528Met)
NM_031292.5(PUS7L):c.160A>T (p.Ile54Phe) rs370773456
NM_031292.5(PUS7L):c.1631C>T (p.Ser544Phe)
NM_031292.5(PUS7L):c.1721G>A (p.Ser574Asn) rs2540286786
NM_031292.5(PUS7L):c.1810C>G (p.Gln604Glu)
NM_031292.5(PUS7L):c.1996A>G (p.Lys666Glu)
NM_031292.5(PUS7L):c.2101G>A (p.Val701Ile)
NM_031292.5(PUS7L):c.232C>G (p.Leu78Val) rs776919496
NM_031292.5(PUS7L):c.251G>A (p.Arg84Lys) rs2540346631
NM_031292.5(PUS7L):c.325G>A (p.Asp109Asn) rs1943109992
NM_031292.5(PUS7L):c.334G>A (p.Val112Ile) rs201808152
NM_031292.5(PUS7L):c.373T>G (p.Leu125Val)
NM_031292.5(PUS7L):c.386T>C (p.Leu129Ser)
NM_031292.5(PUS7L):c.41T>C (p.Leu14Ser)
NM_031292.5(PUS7L):c.68T>C (p.Phe23Ser)
NM_031292.5(PUS7L):c.707A>T (p.Asp236Val) rs753114811
NM_031292.5(PUS7L):c.772G>A (p.Glu258Lys)
NM_031292.5(PUS7L):c.86G>C (p.Ser29Thr)
NM_031292.5(PUS7L):c.965C>G (p.Ala322Gly) rs2540326791
NM_031292.5(PUS7L):c.967A>G (p.Ile323Val)
NM_031292.5(PUS7L):c.985C>T (p.Pro329Ser) rs140009727

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