ClinVar Miner

List of variants in gene MYLK2 reported as uncertain significance by GeneDx

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_033118.4(MYLK2):c.1253C>T (p.Thr418Ile) rs144129296 0.00051
NM_033118.4(MYLK2):c.191G>C (p.Gly64Ala) rs141105787 0.00021
NM_033118.4(MYLK2):c.134C>T (p.Pro45Leu) rs768640764 0.00014
NM_033118.4(MYLK2):c.910G>A (p.Glu304Lys) rs767211264 0.00012
NM_033118.4(MYLK2):c.719T>C (p.Val240Ala) rs531015124 0.00008
NM_033118.4(MYLK2):c.1018C>T (p.Arg340Cys) rs763678910 0.00006
NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe) rs779637525 0.00006
NM_033118.4(MYLK2):c.1700G>A (p.Arg567Lys) rs139331477 0.00006
NM_033118.4(MYLK2):c.1657C>T (p.Arg553Cys) rs765059037 0.00004
NM_033118.4(MYLK2):c.1702C>T (p.Arg568Cys) rs772716379 0.00004
NM_033118.4(MYLK2):c.507C>T (p.Ser169=) rs374538348 0.00004
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met) rs727504591 0.00004
NM_033118.4(MYLK2):c.748G>C (p.Glu250Gln) rs1085307713 0.00004
NM_033118.4(MYLK2):c.1625A>G (p.Asn542Ser) rs775059729 0.00003
NM_033118.4(MYLK2):c.1626C>A (p.Asn542Lys) rs368444888 0.00003
NM_033118.4(MYLK2):c.62C>T (p.Pro21Leu) rs562971411 0.00003
NM_033118.4(MYLK2):c.1265T>C (p.Val422Ala) rs878855173 0.00002
NM_033118.4(MYLK2):c.1606G>A (p.Ala536Thr) rs749619576 0.00002
NM_033118.4(MYLK2):c.511G>A (p.Ala171Thr) rs765400667 0.00002
NM_033118.4(MYLK2):c.1525G>A (p.Val509Ile) rs183224373 0.00001
NM_033118.4(MYLK2):c.1534G>C (p.Glu512Gln) rs767857271 0.00001
NM_033118.4(MYLK2):c.1577+1G>A rs896469988 0.00001
NM_033118.4(MYLK2):c.1582C>T (p.Arg528Trp) rs752617053 0.00001
NM_033118.4(MYLK2):c.1671G>T (p.Gln557His) rs1405172030 0.00001
NM_033118.4(MYLK2):c.1762T>C (p.Ser588Pro) rs1390693355 0.00001
NM_033118.4(MYLK2):c.1766G>A (p.Gly589Glu) rs201168172 0.00001
NM_033118.4(MYLK2):c.1768G>T (p.Ala590Ser) rs150004017 0.00001
NM_033118.4(MYLK2):c.383T>A (p.Val128Glu) rs764494869 0.00001
NM_033118.4(MYLK2):c.606G>C (p.Glu202Asp) rs775405264 0.00001
NM_033118.4(MYLK2):c.793G>C (p.Ala265Pro) rs1301751855 0.00001
NM_033118.4(MYLK2):c.874G>A (p.Gly292Arg) rs1026490690 0.00001
NM_033118.4(MYLK2):c.951G>C (p.Lys317Asn) rs746087682 0.00001
NM_033118.4(MYLK2):c.1083-3C>G rs2123134814
NM_033118.4(MYLK2):c.1138G>A (p.Glu380Lys) rs1174826293
NM_033118.4(MYLK2):c.1164G>C (p.Arg388Ser)
NM_033118.4(MYLK2):c.1173_1174del (p.Cys391_Asp392delinsTer) rs794729067
NM_033118.4(MYLK2):c.1295+1G>A rs2123139586
NM_033118.4(MYLK2):c.1301A>G (p.Asn434Ser)
NM_033118.4(MYLK2):c.1408G>C (p.Val470Leu) rs2123140021
NM_033118.4(MYLK2):c.1613C>T (p.Pro538Leu) rs1600414450
NM_033118.4(MYLK2):c.1621AAC[1] (p.Asn542del)
NM_033118.4(MYLK2):c.166del (p.Ala56fs)
NM_033118.4(MYLK2):c.1748AGA[1] (p.Lys584del) rs774851606
NM_033118.4(MYLK2):c.254G>A (p.Gly85Glu) rs727505328
NM_033118.4(MYLK2):c.322_350dup (p.Gly119fs) rs1409844189
NM_033118.4(MYLK2):c.344A>C (p.Gln115Pro) rs727504681
NM_033118.4(MYLK2):c.599T>C (p.Leu200Pro)
NM_033118.4(MYLK2):c.759C>G (p.Cys253Trp) rs773021152

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