ClinVar Miner

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

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_001135940.2(MYOT):c.-194A>G rs141710153
NM_001135940.2(MYOT):c.-197+175T>C rs202005786
NM_001135940.2(MYOT):c.-197+381T>C rs368052792
NM_006790.2(MYOT):c.*463C>T rs149535236
NM_006790.2(MYOT):c.-233C>A rs186433387
NM_006790.2(MYOT):c.1008G>T (p.Val336=) rs142828368
NM_006790.2(MYOT):c.1102C>T (p.Leu368=) rs747319274
NM_006790.2(MYOT):c.1152A>G (p.Arg384=) rs199541037
NM_006790.2(MYOT):c.1203T>A (p.Asp401Glu) rs78633961
NM_006790.2(MYOT):c.120T>A (p.Ile40=) rs139254363
NM_006790.2(MYOT):c.1275A>G (p.Ala425=) rs140678912
NM_006790.2(MYOT):c.1275A>T (p.Ala425=) rs140678912
NM_006790.2(MYOT):c.1317C>T (p.Asp439=) rs147891371
NM_006790.2(MYOT):c.1335C>T (p.Asn445=) rs769506328
NM_006790.2(MYOT):c.1398T>G (p.Leu466=) rs150033934
NM_006790.2(MYOT):c.1401T>C (p.Asn467=) rs145427063
NM_006790.2(MYOT):c.1404G>C (p.Gly468=) rs200075800
NM_006790.2(MYOT):c.1439A>G (p.Glu480Gly) rs727504026
NM_006790.2(MYOT):c.1453C>T (p.Arg485Cys) rs140755418
NM_006790.2(MYOT):c.220C>A (p.Gln74Lys) rs6890689
NM_006790.2(MYOT):c.342C>T (p.Ser114=) rs34593399
NM_006790.2(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006790.2(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006790.2(MYOT):c.445G>C (p.Glu149Gln) rs71578935
NM_006790.2(MYOT):c.471G>A (p.Leu157=) rs762886873
NM_006790.2(MYOT):c.571G>C (p.Gly191Arg) rs199789331
NM_006790.2(MYOT):c.594G>A (p.Val198=) rs372287923
NM_006790.2(MYOT):c.617G>A (p.Gly206Asp) rs151094883
NM_006790.2(MYOT):c.61T>C (p.Leu21=) rs150786535
NM_006790.2(MYOT):c.683+10T>A rs1296659208
NM_006790.2(MYOT):c.870T>A (p.Val290=) rs946857518
NM_006790.2(MYOT):c.981T>C (p.Asn327=) rs148479015
NM_006790.2(MYOT):c.999C>A (p.Thr333=) rs1320608556
NM_006790.3(MYOT):c.*404G>A
NM_006790.3(MYOT):c.1020C>T (p.Val340=)
NM_006790.3(MYOT):c.1025-5T>C rs200696022
NM_006790.3(MYOT):c.1128T>C (p.Pro376=)
NM_006790.3(MYOT):c.1194A>G (p.Leu398=)
NM_006790.3(MYOT):c.1236T>C (p.Asp412=)
NM_006790.3(MYOT):c.1346del (p.Pro449fs) rs780331457
NM_006790.3(MYOT):c.420G>A (p.Lys140=)
NM_006790.3(MYOT):c.532-5T>C
NM_006790.3(MYOT):c.642C>T (p.Asn214=)
NM_006790.3(MYOT):c.654G>A (p.Ala218=) rs142477496
NM_006790.3(MYOT):c.660G>C (p.Leu220=)
NM_006790.3(MYOT):c.683+8del rs760217241
NM_006790.3(MYOT):c.684-7C>T rs751768323
NM_006790.3(MYOT):c.888C>T (p.His296=) rs565902195
NM_006790.3(MYOT):c.943G>A (p.Ala315Thr)
NM_006790.3(MYOT):c.951T>C (p.Asp317=)

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