List of variants reported as pathogenic for Moyamoya disease with early-onset achalasia

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001130682.3(GUCY1A1):c.1045C>T (p.Arg349Ter)	rs587777321	0.00001
NM_001130682.3(GUCY1A1):c.1086+1G>T	rs587777320	0.00001
NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter)	rs373182378	0.00001
NM_001130682.3(GUCY1A1):c.1086+1G>A	rs587777320
NM_001130682.3(GUCY1A1):c.1170del (p.Glu391fs)	rs587777322
NM_001130682.3(GUCY1A1):c.1422del (p.Lys475fs)
NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr)	rs751701114
NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter)	rs1368733883
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs)	rs781020381

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