List of variants reported as not provided for Action myoclonus-renal failure syndrome by GeneReviews

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)	rs200053119	0.00003
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter)	rs886041078	0.00001
NM_005506.4(SCARB2):c.704+1G>A	rs886041076	0.00001
NM_005506.4(SCARB2):c.704+5G>A	rs774271963	0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter)	rs121909118	0.00001
NM_005506.4(SCARB2):c.1016dup (p.His341fs)	rs886041077
NM_005506.4(SCARB2):c.1087C>A (p.His363Asn)	rs758857853
NM_005506.4(SCARB2):c.111del (p.Ile37fs)	rs886041072
NM_005506.4(SCARB2):c.1239+1G>T	rs727502772
NM_005506.4(SCARB2):c.1258del (p.Glu420fs)	rs727502782
NM_005506.4(SCARB2):c.1385_1390delinsATGCATGCACC (p.Gly462fs)	rs886041079
NM_005506.4(SCARB2):c.1412A>G (p.Glu471Gly)	rs755903502
NM_005506.4(SCARB2):c.296del (p.Asn99fs)	rs886041073
NM_005506.4(SCARB2):c.424-2A>C	rs886041074
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs)	rs727502773
NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter)	rs121909119
NM_005506.4(SCARB2):c.704+1G>C	rs886041076

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