ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP
NM_000856.6(GUCY1A1):c.1045C>T (p.Arg349Ter) rs587777321
NM_000856.6(GUCY1A1):c.1086+1G>A rs587777320
NM_000856.6(GUCY1A1):c.1170del (p.Glu391fs) rs587777322
NM_000856.6(GUCY1A1):c.1258C>T (p.Arg420Ter) rs373182378
NM_000856.6(GUCY1A1):c.1550G>A (p.Cys517Tyr) rs751701114
NM_000856.6(GUCY1A1):c.1954G>T (p.Gly652Ter) rs1368733883
NM_000856.6(GUCY1A1):c.332_333GA[1] (p.Glu112fs) rs781020381

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