ClinVar Miner

List of variants in gene combination LOC126806432, TTN reported by GeneDx

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_133379.5(TTN):c.13980C>G (p.His4660Gln) rs75785339 0.03589
NM_133379.5(TTN):c.14744G>A (p.Arg4915His) rs72648907 0.03447
NM_133379.5(TTN):c.14244T>C (p.Leu4748=) rs139669372 0.00806
NM_133379.5(TTN):c.14754T>G (p.Pro4918=) rs72648908 0.00267
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser) rs149748934 0.00224
NM_133379.5(TTN):c.14820G>A (p.Val4940=) rs145029589 0.00169
NM_133379.5(TTN):c.14214C>T (p.Thr4738=) rs147513899 0.00125
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr) rs150615457 0.00112
NM_133379.5(TTN):c.14489A>G (p.Gln4830Arg) rs144905085 0.00094
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr) rs139486133 0.00054
NM_133379.5(TTN):c.14812A>G (p.Met4938Val) rs145581345 0.00054
NM_133379.5(TTN):c.14327T>C (p.Leu4776Ser) rs142132973 0.00049
NM_133379.5(TTN):c.14616C>T (p.Ser4872=) rs148105798 0.00042
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser) rs72648909 0.00042
NM_133379.5(TTN):c.14945C>G (p.Ser4982Cys) rs147768944 0.00026
NM_133379.5(TTN):c.15122C>G (p.Thr5041Arg) rs148791107 0.00016
NM_133379.5(TTN):c.14450A>C (p.Gln4817Pro) rs769450043 0.00014
NM_133379.5(TTN):c.14015C>T (p.Ala4672Val) rs551658963 0.00005
NM_133379.5(TTN):c.14881C>T (p.Arg4961Cys) rs565101305 0.00005
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys) rs776361113 0.00004
NM_133379.5(TTN):c.14113C>T (p.Arg4705Ter) rs755956493 0.00003
NM_133379.5(TTN):c.15116A>G (p.Tyr5039Cys) rs1322304017 0.00003
NM_133379.5(TTN):c.14316G>A (p.Glu4772=) rs781023824 0.00002
NM_133379.5(TTN):c.14656A>G (p.Asn4886Asp) rs753546575 0.00001
NM_001267550.2(TTN):c.11311+5257G>A
NM_001267550.2(TTN):c.11311+5270C>A rs2531161319
NM_001267550.2(TTN):c.11311+5481A>T
NM_133379.5(TTN):c.14008G>A (p.Val4670Ile) rs794729595
NM_133379.5(TTN):c.14122C>G (p.Gln4708Glu) rs372982398

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