ClinVar Miner

List of variants reported as benign by Blueprint Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_002474.3(MYH11):c.1871G>A (p.Arg624His) rs201991156 0.00068
NM_002474.3(MYH11):c.3196G>A (p.Asp1066Asn) rs200315340 0.00061
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) rs201960644
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085

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