List of variants studied for action myoclonus-renal failure syndrome by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005506.4(SCARB2):c.1187+2dup	rs727502783	0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter)	rs121909118	0.00001
NM_005506.4(SCARB2):c.1114-2A>C	rs727502781
NM_005506.4(SCARB2):c.1239+1G>T	rs727502772
NM_005506.4(SCARB2):c.1258del (p.Glu420fs)	rs727502782
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs)	rs727502773
NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter)	rs121909119

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