List of variants reported as likely pathogenic for Holoprosencephaly 3

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000193.4(SHH):c.676G>A (p.Ala226Thr)	rs104894043	0.00006
NM_000193.4(SHH):c.-3226_301-2327del
NM_000193.4(SHH):c.1037C>T (p.Ala346Val)	rs2117126655
NM_000193.4(SHH):c.143del (p.Ile48fs)	rs1554495331
NM_000193.4(SHH):c.300+2T>C	rs1584805934
NM_000193.4(SHH):c.424G>A (p.Glu142Lys)
NM_000193.4(SHH):c.431G>A (p.Arg144His)
NM_000193.4(SHH):c.596_604del (p.Phe199_Gly201del)	rs2117128881
NM_000193.4(SHH):c.796C>T (p.Leu266Phe)	rs1420292012
NM_000193.4(SHH):c.812T>C (p.Leu271Pro)

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