ClinVar Miner

List of variants in gene combination MYOT, PKD2L2-DT reported as likely benign by GeneDx

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_006790.3(MYOT):c.634-89G>A rs71578936 0.00958
NM_006790.3(MYOT):c.531+301G>T rs114371759 0.00742
NM_006790.3(MYOT):c.1191-273_1191-272insG rs879896600 0.00414
NM_006790.3(MYOT):c.1190+7T>C rs192405601 0.00311
NM_006790.3(MYOT):c.981T>C (p.Asn327=) rs148479015 0.00133
NM_006790.3(MYOT):c.1190+12A>G rs183456886 0.00075
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.323A>C (p.Asn108Thr) rs142416150 0.00019
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln) rs141801816 0.00017
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00013
NM_006790.3(MYOT):c.533G>A (p.Arg178His) rs150293853 0.00011
NM_006790.3(MYOT):c.594G>A (p.Val198=) rs372287923 0.00011
NM_006790.3(MYOT):c.1335C>T (p.Asn445=) rs769506328 0.00005
NM_006790.3(MYOT):c.*15T>C rs369164987 0.00001
NM_006790.3(MYOT):c.630G>A (p.Ser210=) rs375308029 0.00001
NM_006790.3(MYOT):c.858T>C (p.Asn286=) rs915451656 0.00001
NM_006790.3(MYOT):c.-211-152AC[24] rs35301804
NM_006790.3(MYOT):c.-211-297dup rs566265335
NM_006790.3(MYOT):c.1191-272C>G rs879648495
NM_006790.3(MYOT):c.1275A>G (p.Ala425=) rs140678912
NM_006790.3(MYOT):c.1401T>C (p.Asn467=) rs145427063
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006790.3(MYOT):c.634-150T>C rs10071237
NM_006790.3(MYOT):c.684-183G>A rs139831304

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