ClinVar Miner

List of variants in gene combination MYOT, PKD2L2-DT reported as uncertain significance for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP
NM_001135940.2(MYOT):c.-181del rs781353247
NM_001135940.2(MYOT):c.-197+193C>T rs751876756
NM_006790.2(MYOT):c.*167A>G rs886059969
NM_006790.2(MYOT):c.*418T>C rs778508971
NM_006790.2(MYOT):c.-165C>T rs866748883
NM_006790.2(MYOT):c.-89del rs886059966
NM_006790.2(MYOT):c.1139T>C (p.Leu380Pro) rs902179316
NM_006790.2(MYOT):c.1159G>A (p.Glu387Lys) rs373489115
NM_006790.2(MYOT):c.1195T>C (p.Tyr399His) rs147239483
NM_006790.2(MYOT):c.120T>A (p.Ile40=) rs139254363
NM_006790.2(MYOT):c.1222T>C (p.Leu408=) rs886059968
NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly) rs144731446
NM_006790.2(MYOT):c.1300T>C (p.Cys434Arg) rs769872126
NM_006790.2(MYOT):c.1345C>G (p.Pro449Ala) rs766650528
NM_006790.2(MYOT):c.1364G>A (p.Arg455Gln) rs141801816
NM_006790.2(MYOT):c.1364G>C (p.Arg455Pro) rs141801816
NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys) rs145427063
NM_006790.2(MYOT):c.1413G>T (p.Leu471Phe) rs146426896
NM_006790.2(MYOT):c.145G>C (p.Glu49Gln) rs199760778
NM_006790.2(MYOT):c.1497A>T (p.Ter499Tyr) rs779978043
NM_006790.2(MYOT):c.17G>A (p.Arg6His) rs387906882
NM_006790.2(MYOT):c.182A>C (p.His61Pro) rs372276337
NM_006790.2(MYOT):c.1A>T (p.Met1Leu) rs1561657261
NM_006790.2(MYOT):c.257C>A (p.Thr86Lys) rs1205992276
NM_006790.2(MYOT):c.323A>C (p.Asn108Thr) rs142416150
NM_006790.2(MYOT):c.335T>A (p.Ile112Asn) rs752723849
NM_006790.2(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006790.2(MYOT):c.387A>G (p.Ile129Met) rs1554102960
NM_006790.2(MYOT):c.391G>T (p.Ala131Ser) rs1554102961
NM_006790.2(MYOT):c.392C>A (p.Ala131Glu) rs982468554
NM_006790.2(MYOT):c.398C>T (p.Pro133Leu) rs779568205
NM_006790.2(MYOT):c.533G>A (p.Arg178His) rs150293853
NM_006790.2(MYOT):c.563G>T (p.Arg188Ile) rs370165036
NM_006790.2(MYOT):c.629C>T (p.Ser210Leu) rs756669574
NM_006790.2(MYOT):c.650A>G (p.His217Arg) rs758565747
NM_006790.2(MYOT):c.653C>A (p.Ala218Glu) rs533510304
NM_006790.2(MYOT):c.656G>A (p.Arg219Gln) rs745792335
NM_006790.2(MYOT):c.758T>C (p.Ile253Thr) rs201113539
NM_006790.2(MYOT):c.782T>C (p.Ile261Thr) rs764439615
NM_006790.2(MYOT):c.784G>C (p.Asp262His) rs1271782226
NM_006790.2(MYOT):c.816+5G>T rs750433300
NM_006790.2(MYOT):c.817-11T>C rs377759571
NM_006790.2(MYOT):c.83C>T (p.Thr28Ile) rs767662244
NM_006790.2(MYOT):c.86C>T (p.Ser29Phe) rs1580847200
NM_006790.2(MYOT):c.937G>A (p.Val313Ile) rs760955035
NM_006790.2(MYOT):c.98G>T (p.Ser33Ile) rs1554102559
NM_006790.2(MYOT):c.998C>T (p.Thr333Ile) rs758194318
NM_006790.3(MYOT):c.*188A>C
NM_006790.3(MYOT):c.*311A>T
NM_006790.3(MYOT):c.*372G>A
NM_006790.3(MYOT):c.*50T>G
NM_006790.3(MYOT):c.-286C>G
NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn)
NM_006790.3(MYOT):c.1025-3T>C
NM_006790.3(MYOT):c.1084G>C (p.Glu362Gln)
NM_006790.3(MYOT):c.1122del (p.Ile375fs)
NM_006790.3(MYOT):c.1184G>A (p.Arg395Gln)
NM_006790.3(MYOT):c.1266T>A (p.Thr422=)
NM_006790.3(MYOT):c.1291G>A (p.Val431Met)
NM_006790.3(MYOT):c.1370G>A (p.Arg457Gln)
NM_006790.3(MYOT):c.137A>T (p.Gln46Leu)
NM_006790.3(MYOT):c.1397T>G (p.Leu466Arg)
NM_006790.3(MYOT):c.1418T>C (p.Val473Ala)
NM_006790.3(MYOT):c.143C>T (p.Thr48Ile)
NM_006790.3(MYOT):c.1442G>A (p.Gly481Glu)
NM_006790.3(MYOT):c.1457T>C (p.Leu486Ser)
NM_006790.3(MYOT):c.1458G>A (p.Leu486=)
NM_006790.3(MYOT):c.1471G>A (p.Gly491Arg)
NM_006790.3(MYOT):c.147G>C (p.Glu49Asp)
NM_006790.3(MYOT):c.151A>G (p.Arg51Gly)
NM_006790.3(MYOT):c.191T>A (p.Met64Lys)
NM_006790.3(MYOT):c.232G>A (p.Gly78Ser)
NM_006790.3(MYOT):c.252G>C (p.Arg84Ser)
NM_006790.3(MYOT):c.348G>A (p.Met116Ile)
NM_006790.3(MYOT):c.356+13T>G
NM_006790.3(MYOT):c.385A>G (p.Ile129Val)
NM_006790.3(MYOT):c.436C>T (p.Pro146Ser)
NM_006790.3(MYOT):c.449T>C (p.Ile150Thr)
NM_006790.3(MYOT):c.490A>C (p.Lys164Gln)
NM_006790.3(MYOT):c.511C>T (p.Leu171Phe)
NM_006790.3(MYOT):c.524G>A (p.Gly175Glu)
NM_006790.3(MYOT):c.560G>A (p.Arg187His)
NM_006790.3(MYOT):c.609T>A (p.Asp203Glu)
NM_006790.3(MYOT):c.642C>A (p.Asn214Lys)
NM_006790.3(MYOT):c.655C>T (p.Arg219Ter)
NM_006790.3(MYOT):c.67C>A (p.Pro23Thr)
NM_006790.3(MYOT):c.680_683del (p.Val227fs)
NM_006790.3(MYOT):c.686G>A (p.Ser229Asn)
NM_006790.3(MYOT):c.701G>A (p.Arg234Lys)
NM_006790.3(MYOT):c.751C>T (p.Arg251Cys)
NM_006790.3(MYOT):c.752G>A (p.Arg251His)
NM_006790.3(MYOT):c.859G>A (p.Gly287Arg) rs374221793
NM_006790.3(MYOT):c.951T>G (p.Asp317Glu)
NM_006790.3(MYOT):c.966A>G (p.Ala322=)

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