ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease, type 1C by Illumina Clinical Services Laboratory,Illumina

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Total variants: 61
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HGVS dbSNP
NM_001136473.1(LITAF):c.*1007G>A rs535657236
NM_001136473.1(LITAF):c.*1029G>A rs192766322
NM_001136473.1(LITAF):c.*1058C>T rs75472256
NM_001136473.1(LITAF):c.*1074A>G rs886051649
NM_001136473.1(LITAF):c.*116G>A rs371453151
NM_001136473.1(LITAF):c.*1179A>C
NM_001136473.1(LITAF):c.*1295A>G rs886051648
NM_001136473.1(LITAF):c.*1342A>C
NM_001136473.1(LITAF):c.*1376A>G rs7102
NM_001136473.1(LITAF):c.*1489A>C
NM_001136473.1(LITAF):c.*1511G>A
NM_001136473.1(LITAF):c.*1524C>A
NM_001136473.1(LITAF):c.*1540C>A rs80119580
NM_001136473.1(LITAF):c.*1547A>G
NM_001136473.1(LITAF):c.*1561T>G
NM_001136473.1(LITAF):c.*158G>A
NM_001136473.1(LITAF):c.*1618T>G rs77423500
NM_001136473.1(LITAF):c.*1682C>A rs886051647
NM_001136473.1(LITAF):c.*1752G>A rs62022848
NM_001136473.1(LITAF):c.*1757C>G
NM_001136473.1(LITAF):c.*1978A>G rs759832566
NM_001136473.1(LITAF):c.*2004A>G
NM_001136473.1(LITAF):c.*224C>T rs149712652
NM_001136473.1(LITAF):c.*25C>T rs201512884
NM_001136473.1(LITAF):c.*268C>T rs1801977
NM_001136473.1(LITAF):c.*318G>A rs886051652
NM_001136473.1(LITAF):c.*359C>A
NM_001136473.1(LITAF):c.*419A>T rs886051651
NM_001136473.1(LITAF):c.*546C>T rs13336723
NM_001136473.1(LITAF):c.*564G>A rs13337025
NM_001136473.1(LITAF):c.*578C>A rs192516633
NM_001136473.1(LITAF):c.*625A>G
NM_001136473.1(LITAF):c.*688A>C
NM_001136473.1(LITAF):c.*723G>A rs367546754
NM_001136473.1(LITAF):c.*836G>T rs117082330
NM_001136473.1(LITAF):c.*848A>G rs886051650
NM_001136473.1(LITAF):c.*921T>C rs1198
NM_001136473.1(LITAF):c.*941T>A rs7187810
NM_001136473.1(LITAF):c.*96G>A rs543022814
NM_001136473.1(LITAF):c.-6+513G>C
NM_001136473.1(LITAF):c.-6+539G>A rs545189325
NM_001136473.1(LITAF):c.-6+558C>T rs528624227
NM_001136473.1(LITAF):c.-6+594A>G rs12921437
NM_001136473.1(LITAF):c.-6+618C>G
NM_001136473.1(LITAF):c.-6+657C>A rs374282727
NM_001136473.1(LITAF):c.100C>A (p.Pro34Thr) rs759905004
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.158G>C (p.Gly53Ala) rs886051654
NM_001136473.1(LITAF):c.159G>A (p.Gly53=) rs886051653
NM_001136473.1(LITAF):c.234G>A (p.Thr78=) rs9282774
NM_001136473.1(LITAF):c.241G>A (p.Val81Met) rs201653834
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.310G>A (p.Val104Met) rs373445989
NM_001136473.1(LITAF):c.333C>T (p.Ala111=) rs34448402
NM_001136473.1(LITAF):c.357C>T (p.Cys119=) rs549492447
NM_001136473.1(LITAF):c.368G>A (p.Cys123Tyr)
NM_001136473.1(LITAF):c.377+13C>G rs200357430
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.6G>A (p.Ser2=) rs147187481
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr) rs368574479

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