List of variants in gene SUZ12 studied for Imagawa-Matsumoto syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_015355.4(SUZ12):c.274+8T>C	rs201453847	0.01436
NM_015355.4(SUZ12):c.1671T>C (p.Tyr557=)	rs55832508	0.00818
NM_015355.4(SUZ12):c.1049C>T (p.Ser350Phe)
NM_015355.4(SUZ12):c.1132dup (p.Ala378fs)
NM_015355.4(SUZ12):c.1267C>T (p.Arg423Ter)
NM_015355.4(SUZ12):c.1437+1G>T	rs2142215091
NM_015355.4(SUZ12):c.1451del (p.Gly484fs)	rs2142215876
NM_015355.4(SUZ12):c.1657C>T (p.Gln553Ter)	rs1909936773
NM_015355.4(SUZ12):c.1797A>C (p.Gln599His)	rs1567840381
NM_015355.4(SUZ12):c.1807T>C (p.Phe603Leu)	rs1598192095
NM_015355.4(SUZ12):c.1829A>T (p.Glu610Val)	rs1131692177
NM_015355.4(SUZ12):c.1938A>C (p.Lys646Asn)	rs2142222297
NM_015355.4(SUZ12):c.1960C>T (p.Arg654Ter)	rs771704089
NM_015355.4(SUZ12):c.1979T>C (p.Leu660Pro)	rs2142222377
NM_015355.4(SUZ12):c.274+5G>A
NM_015355.4(SUZ12):c.386+1G>A	rs2142117453
NM_015355.4(SUZ12):c.844_845del (p.Ala282fs)	rs1598174225

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