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: 124
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HGVS dbSNP gnomAD frequency
NM_006790.3(MYOT):c.220C>A (p.Gln74Lys) rs6890689 0.01460
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00381
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln) rs71578935 0.00152
NM_006790.3(MYOT):c.981T>C (p.Asn327=) rs148479015 0.00133
NM_006790.3(MYOT):c.-233C>A rs186433387 0.00069
NM_006790.3(MYOT):c.1190+12A>G rs183456886 0.00055
NM_006790.3(MYOT):c.*404G>A rs188240755 0.00051
NM_006790.3(MYOT):c.*463C>T rs149535236 0.00051
NM_006790.3(MYOT):c.120T>A (p.Ile40=) rs139254363 0.00034
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp) rs151094883 0.00028
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln) rs141801816 0.00017
NM_006790.3(MYOT):c.49T>C (p.Cys17Arg) rs202005786 0.00016
NM_006790.3(MYOT):c.1453C>T (p.Arg485Cys) rs140755418 0.00013
NM_006790.3(MYOT):c.342C>T (p.Ser114=) rs34593399 0.00013
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00012
NM_006790.3(MYOT):c.571G>C (p.Gly191Arg) rs199789331 0.00012
NM_006790.3(MYOT):c.594G>A (p.Val198=) rs372287923 0.00011
NM_006790.3(MYOT):c.1324+11C>G rs773002668 0.00010
NM_006790.3(MYOT):c.359A>G (p.Tyr120Cys) rs141710153 0.00010
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu) rs78633961 0.00006
NM_006790.3(MYOT):c.1335C>T (p.Asn445=) rs769506328 0.00006
NM_006790.3(MYOT):c.1458G>A (p.Leu486=) rs202139846 0.00005
NM_006790.3(MYOT):c.252G>A (p.Arg84=) rs886044687 0.00005
NM_006790.3(MYOT):c.1152A>G (p.Arg384=) rs199541037 0.00004
NM_006790.3(MYOT):c.357-15T>A rs763876363 0.00004
NM_006790.3(MYOT):c.943G>A (p.Ala315Thr) rs536024294 0.00004
NM_006790.3(MYOT):c.1317C>T (p.Asp439=) rs147891371 0.00003
NM_006790.3(MYOT):c.1398T>G (p.Leu466=) rs150033934 0.00003
NM_006790.3(MYOT):c.61T>C (p.Leu21=) rs150786535 0.00003
NM_006790.3(MYOT):c.817-11T>C rs377759571 0.00003
NM_006790.3(MYOT):c.951T>C (p.Asp317=) rs753927065 0.00003
NM_006790.3(MYOT):c.471G>A (p.Leu157=) rs762886873 0.00002
NM_006790.3(MYOT):c.1102C>T (p.Leu368=) rs747319274 0.00001
NM_006790.3(MYOT):c.1128T>C (p.Pro376=) rs1561665586 0.00001
NM_006790.3(MYOT):c.1191-7A>C rs769023225 0.00001
NM_006790.3(MYOT):c.1222T>C (p.Leu408=) rs886059968 0.00001
NM_006790.3(MYOT):c.1236T>C (p.Asp412=) rs761712531 0.00001
NM_006790.3(MYOT):c.1242C>T (p.Asn414=) rs1173495538 0.00001
NM_006790.3(MYOT):c.1266T>A (p.Thr422=) rs760246681 0.00001
NM_006790.3(MYOT):c.1386A>G (p.Lys462=) rs758512747 0.00001
NM_006790.3(MYOT):c.1411T>C (p.Leu471=) rs886043262 0.00001
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly) rs727504026 0.00001
NM_006790.3(MYOT):c.255T>C (p.Val85=) rs368052792 0.00001
NM_006790.3(MYOT):c.318T>C (p.Asp106=) rs753980297 0.00001
NM_006790.3(MYOT):c.414T>C (p.Asn138=) rs747546314 0.00001
NM_006790.3(MYOT):c.420G>A (p.Lys140=) rs1011148618 0.00001
NM_006790.3(MYOT):c.459A>G (p.Ser153=) rs770101476 0.00001
NM_006790.3(MYOT):c.618T>C (p.Gly206=) rs1477979641 0.00001
NM_006790.3(MYOT):c.654G>A (p.Ala218=) rs142477496 0.00001
NM_006790.3(MYOT):c.683+10T>A rs1296659208 0.00001
NM_006790.3(MYOT):c.683+9T>A rs766928007 0.00001
NM_006790.3(MYOT):c.684-7C>T rs751768323 0.00001
NM_006790.3(MYOT):c.858T>C (p.Asn286=) rs915451656 0.00001
NM_006790.3(MYOT):c.870T>A (p.Val290=) rs946857518 0.00001
NM_006790.3(MYOT):c.966A>G (p.Ala322=) rs765025826 0.00001
NM_006790.3(MYOT):c.96T>C (p.Ser32=) rs545828785 0.00001
NM_006790.3(MYOT):c.999C>A (p.Thr333=) rs1320608556 0.00001
NM_006790.3(MYOT):c.1020C>T (p.Val340=) rs2149988121
NM_006790.3(MYOT):c.1025-5T>C rs200696022
NM_006790.3(MYOT):c.1041A>G (p.Arg347=)
NM_006790.3(MYOT):c.1089A>C (p.Gly363=) rs2149989834
NM_006790.3(MYOT):c.1119G>A (p.Ser373=)
NM_006790.3(MYOT):c.1167A>G (p.Val389=)
NM_006790.3(MYOT):c.1190+18A>G
NM_006790.3(MYOT):c.1191-19T>G
NM_006790.3(MYOT):c.1194A>G (p.Leu398=) rs781674627
NM_006790.3(MYOT):c.1275A>G (p.Ala425=) rs140678912
NM_006790.3(MYOT):c.1275A>T (p.Ala425=) rs140678912
NM_006790.3(MYOT):c.1281T>C (p.Asn427=)
NM_006790.3(MYOT):c.12C>T (p.Tyr4=)
NM_006790.3(MYOT):c.1324+12T>A rs1580868461
NM_006790.3(MYOT):c.1324+18C>T rs1266793465
NM_006790.3(MYOT):c.1324+9T>A
NM_006790.3(MYOT):c.1346del (p.Pro449fs) rs780331457
NM_006790.3(MYOT):c.1401T>C (p.Asn467=) rs145427063
NM_006790.3(MYOT):c.1404G>C (p.Gly468=) rs200075800
NM_006790.3(MYOT):c.1425A>G (p.Gln475=)
NM_006790.3(MYOT):c.1479T>C (p.Tyr493=)
NM_006790.3(MYOT):c.156T>C (p.Phe52=)
NM_006790.3(MYOT):c.189C>G (p.Thr63=)
NM_006790.3(MYOT):c.198C>A (p.Ser66=)
NM_006790.3(MYOT):c.207C>T (p.Phe69=)
NM_006790.3(MYOT):c.249A>G (p.Gln83=) rs746724861
NM_006790.3(MYOT):c.279A>G (p.Pro93=)
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006790.3(MYOT):c.357-17_357-14del
NM_006790.3(MYOT):c.357-19T>C
NM_006790.3(MYOT):c.469T>C (p.Leu157=)
NM_006790.3(MYOT):c.48A>C (p.Pro16=) rs1755018928
NM_006790.3(MYOT):c.495G>C (p.Leu165=)
NM_006790.3(MYOT):c.516T>C (p.Leu172=)
NM_006790.3(MYOT):c.519T>C (p.His173=) rs1417425923
NM_006790.3(MYOT):c.522T>C (p.Asn174=) rs2149982065
NM_006790.3(MYOT):c.531+16A>G
NM_006790.3(MYOT):c.532-12A>T rs2149983126
NM_006790.3(MYOT):c.532-5T>C rs1313241093
NM_006790.3(MYOT):c.565T>C (p.Leu189=)
NM_006790.3(MYOT):c.634-14_634-10del rs747808820
NM_006790.3(MYOT):c.642C>T (p.Asn214=) rs957169726
NM_006790.3(MYOT):c.651T>C (p.His217=) rs2149985942
NM_006790.3(MYOT):c.660G>C (p.Leu220=) rs775405759
NM_006790.3(MYOT):c.683+8A>T
NM_006790.3(MYOT):c.683+8del rs760217241
NM_006790.3(MYOT):c.684-11T>C
NM_006790.3(MYOT):c.684-16C>A
NM_006790.3(MYOT):c.684-16C>T rs2149986871
NM_006790.3(MYOT):c.684-7C>A
NM_006790.3(MYOT):c.690A>G (p.Arg230=)
NM_006790.3(MYOT):c.693A>C (p.Ser231=)
NM_006790.3(MYOT):c.714T>C (p.Asn238=)
NM_006790.3(MYOT):c.735G>A (p.Glu245=)
NM_006790.3(MYOT):c.744C>T (p.Tyr248=) rs1755452268
NM_006790.3(MYOT):c.793A>C (p.Arg265=) rs1580862520
NM_006790.3(MYOT):c.816+12G>C
NM_006790.3(MYOT):c.816+16A>G
NM_006790.3(MYOT):c.816+17A>G rs1561663485
NM_006790.3(MYOT):c.817-14G>A
NM_006790.3(MYOT):c.855A>C (p.Leu285=)
NM_006790.3(MYOT):c.888C>T (p.His296=) rs565902195
NM_006790.3(MYOT):c.900G>A (p.Val300=)
NM_006790.3(MYOT):c.903T>C (p.Ser301=) rs1755503081
NM_006790.3(MYOT):c.927C>A (p.Ile309=)
NM_006790.3(MYOT):c.972T>A (p.Val324=)

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