ClinVar Miner

List of variants reported as likely benign for Holoprosencephaly 4 by Invitae

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003244.4(TGIF1):c.320A>T (p.Gln107Leu) rs28939693 0.00048
NM_003244.4(TGIF1):c.225A>G (p.Thr75=) rs142830828 0.00014
NM_003244.4(TGIF1):c.711C>A (p.Pro237=) rs141303152 0.00011
NM_003244.4(TGIF1):c.16+10C>T rs373881756 0.00004
NM_003244.4(TGIF1):c.451A>G (p.Thr151Ala) rs121909068 0.00004
NM_003244.4(TGIF1):c.90C>T (p.Ser30=) rs760906198 0.00004
NM_003244.4(TGIF1):c.612G>C (p.Ala204=) rs775764296 0.00003
NM_003244.4(TGIF1):c.264C>T (p.Asn88=) rs375583740 0.00002
NM_003244.4(TGIF1):c.16+11C>G rs879781590 0.00001
NM_003244.4(TGIF1):c.16+14G>A rs746063172 0.00001
NM_003244.4(TGIF1):c.408A>G (p.Leu136=) rs772528947 0.00001
NM_003244.4(TGIF1):c.810T>C (p.Leu270=) rs766739006 0.00001
NM_003244.4(TGIF1):c.124C>T (p.Leu42=)
NM_003244.4(TGIF1):c.16+9G>A
NM_003244.4(TGIF1):c.244-13G>A
NM_003244.4(TGIF1):c.244-19C>T
NM_003244.4(TGIF1):c.288C>T (p.Asp96=) rs2143416759
NM_003244.4(TGIF1):c.678G>A (p.Thr226=)

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