ClinVar Miner

List of variants in gene combination LOC126806423, TTN reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 0.00031
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn) rs375676529 0.00012
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln) rs200146608 0.00010
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val) rs199583938 0.00010
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser) rs200493270 0.00010
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His) rs727504520 0.00008
NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu) rs534340303 0.00005
NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile) rs775731759 0.00004
NM_001267550.2(TTN):c.68007G>A (p.Lys22669=) rs755897447 0.00004
NM_001267550.2(TTN):c.68303A>G (p.Lys22768Arg) rs761210578 0.00004
NM_001267550.2(TTN):c.67685C>A (p.Ala22562Asp) rs776797528 0.00002
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg) rs775579156 0.00002
NM_001267550.2(TTN):c.67989A>T (p.Leu22663Phe) rs1485610846 0.00001
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) rs758700425 0.00001
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) rs727505352 0.00001
NM_001267550.2(TTN):c.68224+3A>G rs1006017098 0.00001
NM_001267550.2(TTN):c.68248C>T (p.Pro22750Ser) rs764562311 0.00001
NM_001267550.2(TTN):c.68252A>G (p.Asn22751Ser) rs761226149 0.00001
NM_001267550.2(TTN):c.67541_67542delinsTG (p.Thr22514Met) rs1553622336
NM_001267550.2(TTN):c.67616T>C (p.Val22539Ala) rs1553622176
NM_001267550.2(TTN):c.67636+2_67636+3insC rs2047225762
NM_001267550.2(TTN):c.67636G>A (p.Val22546Met) rs794729244
NM_001267550.2(TTN):c.67804T>C (p.Ser22602Pro) rs780276317
NM_001267550.2(TTN):c.67817C>T (p.Thr22606Ile) rs1254285646
NM_001267550.2(TTN):c.67918G>A (p.Val22640Ile) rs750093105
NM_001267550.2(TTN):c.67919T>C (p.Val22640Ala) rs1060500506
NM_001267550.2(TTN):c.68066A>G (p.Asn22689Ser) rs375397094
NM_001267550.2(TTN):c.68176G>A (p.Val22726Ile) rs1553620392
NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser) rs886039082
NM_001267550.2(TTN):c.68224+3_68224+6del
NM_001267550.2(TTN):c.68224+5G>A
NM_001267550.2(TTN):c.68230C>A (p.Pro22744Thr)
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=) rs1553619783
NM_001267550.2(TTN):c.68329+2_68329+3insTT rs536078303
NM_001267550.2(TTN):c.68329G>C (p.Gly22777Arg) rs2154174748

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