ClinVar Miner

List of variants studied for Meckel syndrome, type 8

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 79
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HGVS dbSNP
NM_024809.5(TCTN2):c.*146C>T
NM_024809.5(TCTN2):c.*155G>A rs12811354
NM_024809.5(TCTN2):c.*166T>G rs886049057
NM_024809.5(TCTN2):c.*258G>C rs540710300
NM_024809.5(TCTN2):c.*290C>G
NM_024809.5(TCTN2):c.*412T>C rs112525270
NM_024809.5(TCTN2):c.*45G>A rs142969969
NM_024809.5(TCTN2):c.*468C>T rs7398298
NM_024809.5(TCTN2):c.*477G>A
NM_024809.5(TCTN2):c.*493T>A
NM_024809.5(TCTN2):c.*559C>T
NM_024809.5(TCTN2):c.*562G>C
NM_024809.5(TCTN2):c.*587C>T rs548909798
NM_024809.5(TCTN2):c.*608T>C
NM_024809.5(TCTN2):c.*67C>T rs112214860
NM_024809.5(TCTN2):c.*71T>G
NM_024809.5(TCTN2):c.*87C>T rs113292231
NM_024809.5(TCTN2):c.-15C>T rs575728856
NM_024809.5(TCTN2):c.-55C>A rs78846567
NM_024809.5(TCTN2):c.-95G>A rs7980060
NM_024809.5(TCTN2):c.1099+19T>C rs7137946
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867
NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr) rs372235872
NM_024809.5(TCTN2):c.1267T>G (p.Leu423Val)
NM_024809.5(TCTN2):c.1329G>A (p.Lys443=)
NM_024809.5(TCTN2):c.134dup (p.Val46fs) rs797046040
NM_024809.5(TCTN2):c.1393+15T>C
NM_024809.5(TCTN2):c.1393+7C>T rs7298440
NM_024809.5(TCTN2):c.1394-6T>C
NM_024809.5(TCTN2):c.1506-2A>G rs374349989
NM_024809.5(TCTN2):c.1573G>C (p.Asp525His)
NM_024809.5(TCTN2):c.1612+12C>T rs117614122
NM_024809.5(TCTN2):c.1662C>T (p.Asn554=)
NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys)
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu) rs372687837
NM_024809.5(TCTN2):c.1818C>G (p.His606Gln) rs778418417
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=) rs201834126
NM_024809.5(TCTN2):c.1852C>T (p.Gln618Ter)
NM_024809.5(TCTN2):c.1872A>G (p.Ala624=)
NM_024809.5(TCTN2):c.1886C>G (p.Pro629Arg) rs886049056
NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu)
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val) rs137939978
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301
NM_024809.5(TCTN2):c.267+3A>G
NM_024809.5(TCTN2):c.289A>G (p.Arg97Gly)
NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys)
NM_024809.5(TCTN2):c.464-7T>A
NM_024809.5(TCTN2):c.490G>T (p.Val164Leu)
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu) rs201140519
NM_024809.5(TCTN2):c.523T>G (p.Leu175Val) rs768824874
NM_024809.5(TCTN2):c.564+3A>C rs761089886
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala) rs146698907
NM_024809.5(TCTN2):c.588G>A (p.Thr196=) rs201545344
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326
NM_024809.5(TCTN2):c.615C>A (p.Gly205=) rs147485641
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) rs139927033
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149
NM_024809.5(TCTN2):c.671C>A (p.Thr224Lys)
NM_024809.5(TCTN2):c.677G>A (p.Arg226His) rs774785140
NM_024809.5(TCTN2):c.703del (p.Leu235fs) rs760830696
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216
NM_024809.5(TCTN2):c.752A>G (p.Tyr251Cys)
NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr)
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) rs151318349
NM_024809.5(TCTN2):c.796T>C (p.Tyr266His)
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556
NM_024809.5(TCTN2):c.813A>C (p.Ala271=) rs886049054
NM_024809.5(TCTN2):c.83-4C>T rs73416299
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) rs750458642
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100
NM_024809.5(TCTN2):c.891+7G>A rs7313032
NM_024809.5(TCTN2):c.892G>C (p.Val298Leu) rs886049055
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131
NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu)

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