List of variants reported as likely pathogenic for HNSHA due to aldolase A deficiency

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 16p11.2(chr16:29624260-29874118)x3
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val)	rs2151019295
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr)	rs2151019809
NM_001243177.4(ALDOA):c.702+1G>A
NM_001243177.4(ALDOA):c.786+2T>C
NM_001243177.4(ALDOA):c.787-2A>G

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