ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 1 by Invitae

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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HGVS dbSNP
NC_000016.10:g.(?_11549637)_(11556730_?)dup
NC_000016.9:g.(?_11643473)_(11650606_?)dup
NM_001136473.1(LITAF):c.*107C>T rs774123275
NM_001136473.1(LITAF):c.*117C>T rs748017885
NM_001136473.1(LITAF):c.*118G>A rs864622744
NM_001136473.1(LITAF):c.*17-3C>T rs774213197
NM_001136473.1(LITAF):c.*43C>T rs797044848
NM_001136473.1(LITAF):c.*48T>C
NM_001136473.1(LITAF):c.*49G>A rs144232569
NM_001136473.1(LITAF):c.*50C>T rs748118642
NM_001136473.1(LITAF):c.*51G>A rs780788687
NM_001136473.1(LITAF):c.*57G>A rs754821950
NM_001136473.1(LITAF):c.*63C>T rs1174214039
NM_001136473.1(LITAF):c.*68C>A rs374918259
NM_001136473.1(LITAF):c.*69G>T
NM_001136473.1(LITAF):c.*96G>A rs543022814
NM_001136473.1(LITAF):c.108T>G (p.Pro36=) rs140990446
NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser) rs375202318
NM_001136473.1(LITAF):c.124G>T (p.Gly42Trp)
NM_001136473.1(LITAF):c.135G>A (p.Thr45=) rs758166691
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.147G>A (p.Thr49=) rs145659732
NM_001136473.1(LITAF):c.151C>T (p.Pro51Ser) rs752978718
NM_001136473.1(LITAF):c.157G>A (p.Gly53Arg)
NM_001136473.1(LITAF):c.172C>T (p.Pro58Ser)
NM_001136473.1(LITAF):c.179C>T (p.Ser60Leu) rs765644026
NM_001136473.1(LITAF):c.17C>T (p.Pro6Leu)
NM_001136473.1(LITAF):c.205C>T (p.Pro69Ser) rs1555466907
NM_001136473.1(LITAF):c.209A>G (p.Asn70Ser) rs746577483
NM_001136473.1(LITAF):c.220+4C>T
NM_001136473.1(LITAF):c.223A>G (p.Thr75Ala) rs756539992
NM_001136473.1(LITAF):c.226G>A (p.Val76Met) rs371334679
NM_001136473.1(LITAF):c.226G>T (p.Val76Leu) rs371334679
NM_001136473.1(LITAF):c.234G>A (p.Thr78=) rs9282774
NM_001136473.1(LITAF):c.236T>C (p.Val79Ala) rs1597329501
NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys) rs539627278
NM_001136473.1(LITAF):c.240C>T (p.Tyr80=) rs149184234
NM_001136473.1(LITAF):c.241G>A (p.Val81Met) rs201653834
NM_001136473.1(LITAF):c.25G>A (p.Ala9Thr) rs1267030887
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys) rs375665454
NM_001136473.1(LITAF):c.26C>T (p.Ala9Val)
NM_001136473.1(LITAF):c.272C>T (p.Pro91Leu) rs11544251
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.27G>A (p.Ala9=) rs149518815
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) rs201283647
NM_001136473.1(LITAF):c.310G>A (p.Val104Met) rs373445989
NM_001136473.1(LITAF):c.310G>T (p.Val104Leu)
NM_001136473.1(LITAF):c.32C>T (p.Thr11Ile) rs200702853
NM_001136473.1(LITAF):c.330C>T (p.Asn110=) rs139116481
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_001136473.1(LITAF):c.333C>T (p.Ala111=) rs34448402
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136473.1(LITAF):c.340C>G (p.Leu114Val) rs1567235442
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001136473.1(LITAF):c.351G>C (p.Leu117=) rs372220196
NM_001136473.1(LITAF):c.357C>T (p.Cys119=) rs549492447
NM_001136473.1(LITAF):c.371T>C (p.Leu124Pro) rs1597329148
NM_001136473.1(LITAF):c.374T>C (p.Leu125Pro)
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.45A>G (p.Ser15=) rs112192052
NM_001136473.1(LITAF):c.51A>G (p.Pro17=) rs751525365
NM_001136473.1(LITAF):c.54C>T (p.Ser18=) rs150211233
NM_001136473.1(LITAF):c.55G>A (p.Ala19Thr)
NM_001136473.1(LITAF):c.6G>A (p.Ser2=) rs147187481
NM_001136473.1(LITAF):c.85G>A (p.Val29Ile) rs767809270
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr) rs368574479

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