List of variants studied for 8q24.3 microdeletion syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_078480.3(PUF60):c.1154_1166del (p.Pro385fs)	rs2130223089
NM_078480.3(PUF60):c.116C>T (p.Thr39Ile)
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg)	rs1816336903
NM_078480.3(PUF60):c.361C>T (p.Arg121Trp)	rs2130258570
NM_078480.3(PUF60):c.367C>T (p.Arg123Trp)
NM_078480.3(PUF60):c.382_383del (p.Met128fs)	rs2130258214
NM_078480.3(PUF60):c.436C>T (p.Arg146Cys)	rs2130257405
NM_078480.3(PUF60):c.510+1G>A	rs1816618311
NM_078480.3(PUF60):c.615del (p.Ser206fs)
NM_078480.3(PUF60):c.803_809del (p.Gly268fs)	rs2130244708
NM_078480.3(PUF60):c.860dup (p.Met287fs)	rs2130242101

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