ClinVar Miner

List of variants reported as likely benign for Action myoclonus-renal failure syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_005506.4(SCARB2):c.171T>C (p.Pro57=) rs199895330 0.00232
NM_005506.4(SCARB2):c.704+16T>C rs199686576 0.00148
NM_005506.4(SCARB2):c.246G>C (p.Arg82=) rs35035064 0.00116
NM_005506.4(SCARB2):c.276-7C>G rs200507087 0.00042
NM_005506.4(SCARB2):c.567T>C (p.His189=) rs141208366 0.00037
NM_005506.4(SCARB2):c.228C>T (p.Leu76=) rs35069772 0.00016
NM_005506.4(SCARB2):c.424-5C>T rs192876326 0.00014
NM_005506.4(SCARB2):c.1187+18C>T rs202159028 0.00009
NM_005506.4(SCARB2):c.275+20T>C rs377180838 0.00009
NM_005506.4(SCARB2):c.117+19T>C rs774812479 0.00007
NM_005506.4(SCARB2):c.1089T>C (p.His363=) rs753197792 0.00004
NM_005506.4(SCARB2):c.522C>T (p.Asp174=) rs375051752 0.00004
NM_005506.4(SCARB2):c.93G>A (p.Lys31=) rs558215488 0.00004
NM_005506.4(SCARB2):c.1116G>A (p.Leu372=) rs564647544 0.00003
NM_005506.4(SCARB2):c.824+20G>A rs1257697437 0.00002
NM_005506.4(SCARB2):c.276-17C>T rs1732375088 0.00001
NM_005506.4(SCARB2):c.33G>T (p.Thr11=) rs774721226 0.00001

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