List of variants studied for holoprosencephaly 1 by Mendelics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001374353.1(GLI2):c.149-274C>G	rs6745937	0.82005
NM_001378964.1(CDON):c.3662T>A (p.Ile1221Asn)	rs684535	0.74435
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His)	rs149091975	0.00053
NM_033163.5(FGF8):c.686C>T (p.Thr229Met)	rs137852664	0.00013
NM_033163.5(FGF8):c.506C>T (p.Ala169Val)	rs1589809739

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