ClinVar Miner

List of variants reported as likely benign for CLTC-related disorder by PreventionGenetics, part of Exact Sciences

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004859.4(CLTC):c.87C>T (p.Thr29=) rs139085965 0.00108
NM_004859.4(CLTC):c.1522-8G>C rs377049407 0.00085
NM_004859.4(CLTC):c.18A>C (p.Pro6=) rs76471984 0.00034
NM_004859.4(CLTC):c.1029A>G (p.Gln343=) rs146333268 0.00033
NM_004859.4(CLTC):c.3333T>A (p.Leu1111=) rs145280858 0.00023
NM_004859.4(CLTC):c.2562-5C>T rs200170084 0.00017
NM_004859.4(CLTC):c.4722C>T (p.Tyr1574=) rs367867382 0.00009
NM_004859.4(CLTC):c.4904-8T>G rs367691240 0.00009
NM_004859.4(CLTC):c.4980C>T (p.Thr1660=) rs199812583 0.00007
NM_004859.4(CLTC):c.3762A>G (p.Lys1254=) rs111452880 0.00005
NM_004859.4(CLTC):c.3096A>C (p.Ala1032=) rs150533662 0.00004
NM_004859.4(CLTC):c.*6A>G rs941861509 0.00001
NM_004859.4(CLTC):c.1947+8A>T rs1273358811 0.00001
NM_004859.4(CLTC):c.4170A>G (p.Gln1390=) rs755570870 0.00001
NM_004859.4(CLTC):c.*9G>A
NM_004859.4(CLTC):c.1920G>C (p.Val640=) rs2032738501
NM_004859.4(CLTC):c.2562-19TTTTTTCC[3] rs2032979421
NM_004859.4(CLTC):c.4903+5TC[2] rs758438882

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