ClinVar Miner

Variants in gene MYH6 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=) rs144329079 0.00141
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_002471.4(MYH6):c.2807C>T (p.Ala936Val) rs199838024 0.00067
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=) rs200662317 0.00062
NM_002471.4(MYH6):c.643-5C>T rs199859986 0.00041
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val) rs75487328 0.00028
NM_002471.4(MYH6):c.1410C>T (p.Asp470=) rs139886074 0.00011
NM_002471.4(MYH6):c.2685G>A (p.Ala895=) rs752345245 0.00006
NM_002471.4(MYH6):c.3860-15T>G rs200883903 0.00003
NM_002471.4(MYH6):c.3343-3del rs1027186100
NM_002471.4(MYH6):c.3979-7_3979-5del rs397516764
NM_002471.4(MYH6):c.3979-8_3979-7delinsGC rs727503235
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002471.4(MYH6):c.3979-8dup rs193922652
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC rs796876119

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