List of variants reported as likely pathogenic for Harel-Yoon syndrome

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)
NC_000001.11:g.(1475764_1482998)_(1517413_1518921)del
NM_001170535.3(ATAD3A):c.1141dup (p.Val381fs)	rs1641722871
NM_001170535.3(ATAD3A):c.1361A>G (p.Asn454Ser)	rs2100677960
NM_001170535.3(ATAD3A):c.1414del (p.His472fs)	rs1172676832
NM_001170535.3(ATAD3A):c.1583G>A (p.Arg528Gln)	rs902213391
NM_001170535.3(ATAD3A):c.283-60del	rs1557458134
NM_001170535.3(ATAD3A):c.964-1G>T	rs1641698007
NM_031921.6(ATAD3B):c.1611G>A (p.Trp537Ter)

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