ClinVar Miner

List of variants in gene PTK2 reported as uncertain significance for not specified

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001352702.2(PTK2):c.2950A>G (p.Ser984Gly) rs61733047 0.00066
NM_001352702.2(PTK2):c.2403C>G (p.Ile801Met) rs139239813 0.00033
NM_001352702.2(PTK2):c.2879A>G (p.Asn960Ser) rs146729199 0.00032
NM_001352702.2(PTK2):c.2508C>A (p.Asp836Glu) rs55799133 0.00030
NM_001352702.2(PTK2):c.1007T>C (p.Ile336Thr) rs369812412 0.00020
NM_001352702.2(PTK2):c.2770G>A (p.Gly924Ser) rs140371105 0.00018
NM_001352702.2(PTK2):c.221G>C (p.Ser74Thr) rs141575134 0.00012
NM_001352702.2(PTK2):c.2495C>G (p.Ser832Cys) rs185796736 0.00011
NM_001352702.2(PTK2):c.1513G>A (p.Val505Met) rs143634132 0.00010
NM_001352702.2(PTK2):c.3049C>G (p.Pro1017Ala) rs139442064 0.00006
NM_001352702.2(PTK2):c.310G>A (p.Val104Ile) rs200017517 0.00005
NM_001352702.2(PTK2):c.2918C>T (p.Thr973Met) rs149065728 0.00004
NM_001352702.2(PTK2):c.2488G>A (p.Glu830Lys) rs367667977 0.00003
NM_001352702.2(PTK2):c.458G>A (p.Ser153Asn) rs1429836651 0.00002
NM_001352702.2(PTK2):c.1319C>T (p.Thr440Ile) rs759201511 0.00001
NM_001352702.2(PTK2):c.1511G>A (p.Ser504Asn) rs369322976 0.00001
NM_001352702.2(PTK2):c.157G>A (p.Ala53Thr) rs746349246 0.00001
NM_001352702.2(PTK2):c.2734G>A (p.Ala912Thr) rs780152984 0.00001
NM_001352702.2(PTK2):c.104G>A (p.Arg35Gln) rs2552302648
NM_001352702.2(PTK2):c.1157C>T (p.Thr386Ile)
NM_001352702.2(PTK2):c.1328T>G (p.Met443Arg)
NM_001352702.2(PTK2):c.1375C>G (p.Gln459Glu) rs2552290674
NM_001352702.2(PTK2):c.1387A>G (p.Ile463Val) rs1334497061
NM_001352702.2(PTK2):c.1624C>G (p.Leu542Val)
NM_001352702.2(PTK2):c.1649C>T (p.Ser550Leu) rs2154472400
NM_001352702.2(PTK2):c.1673G>C (p.Ser558Thr)
NM_001352702.2(PTK2):c.194G>A (p.Arg65Lys)
NM_001352702.2(PTK2):c.2276C>G (p.Pro759Arg) rs774124653
NM_001352702.2(PTK2):c.2329A>G (p.Met777Val)
NM_001352702.2(PTK2):c.2387C>T (p.Ala796Val) rs1403693308
NM_001352702.2(PTK2):c.2465T>C (p.Ile822Thr) rs764077150
NM_001352702.2(PTK2):c.2564G>A (p.Arg855Gln)
NM_001352702.2(PTK2):c.2575G>C (p.Glu859Gln)
NM_001352702.2(PTK2):c.2594G>A (p.Arg865His)
NM_001352702.2(PTK2):c.2631T>G (p.Asp877Glu)
NM_001352702.2(PTK2):c.2645G>A (p.Arg882Gln)
NM_001352702.2(PTK2):c.271C>T (p.Arg91Trp)
NM_001352702.2(PTK2):c.2755C>T (p.Arg919Cys)
NM_001352702.2(PTK2):c.2886C>G (p.Asp962Glu) rs777726721
NM_001352702.2(PTK2):c.2896G>T (p.Asp966Tyr) rs2551334970
NM_001352702.2(PTK2):c.2957T>C (p.Ile986Thr)
NM_001352702.2(PTK2):c.3050C>T (p.Pro1017Leu)
NM_001352702.2(PTK2):c.3137A>G (p.Lys1046Arg)
NM_001352702.2(PTK2):c.3151T>C (p.Tyr1051His) rs748295072
NM_001352702.2(PTK2):c.3194T>A (p.Leu1065Gln)
NM_001352702.2(PTK2):c.3241G>T (p.Val1081Phe)
NM_001352702.2(PTK2):c.40C>A (p.Pro14Thr) rs191376716
NM_001352702.2(PTK2):c.431T>C (p.Leu144Ser)
NM_001352702.2(PTK2):c.441C>G (p.Phe147Leu) rs2552301377
NM_001352702.2(PTK2):c.474G>T (p.Glu158Asp)
NM_001352702.2(PTK2):c.487G>C (p.Val163Leu) rs2552300712
NM_001352702.2(PTK2):c.572A>T (p.Lys191Met)

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