List of variants reported as pathogenic for megalencephaly-severe kyphoscoliosis-overgrowth syndrome by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003922.4(HERC1):c.13559G>A (p.Gly4520Glu)	rs769677823
NM_003922.4(HERC1):c.14072G>C (p.Arg4691Pro)	rs757446033
NM_003922.4(HERC1):c.2625G>A (p.Trp875Ter)	rs879253786
NM_003922.4(HERC1):c.4906-2A>C	rs797045141
NM_003922.4(HERC1):c.9748C>T (p.Arg3250Ter)	rs753780877

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