ClinVar Miner

Variants in gene MYL3 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_000258.3(MYL3):c.69C>T (p.Pro23=) rs2233264 0.02058
NM_000258.3(MYL3):c.129+54_129+55del rs544241793 0.00277
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_000258.3(MYL3):c.81T>C (p.Pro27=) rs147584015 0.00125
NM_000258.3(MYL3):c.559+6C>T rs199474709 0.00073
NM_000258.3(MYL3):c.482-14C>A rs201780962 0.00048
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_000258.3(MYL3):c.482-17C>T rs201289145 0.00030
NM_000258.3(MYL3):c.*13+5G>C rs200422816 0.00013
NM_000258.3(MYL3):c.*9C>T rs202234617 0.00007
NM_000258.3(MYL3):c.246G>A (p.Ala82=) rs368364468 0.00004
NM_000258.3(MYL3):c.92G>A (p.Arg31His) rs199639940 0.00003
NM_000258.3(MYL3):c.219C>T (p.Tyr73=) rs780500137 0.00002
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) rs145520567 0.00002
NM_000258.3(MYL3):c.247C>T (p.Leu83=) rs1246506798 0.00001
NM_000258.3(MYL3):c.381A>C (p.Thr127=) rs758267230 0.00001
NM_000258.3(MYL3):c.158-4del rs776431941
NM_000258.3(MYL3):c.411G>A (p.Leu137=) rs2233265
NM_000258.3(MYL3):c.411G>T (p.Leu137=) rs2233265
NM_000258.3(MYL3):c.477G>T (p.Thr159=) rs148365503

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