List of variants studied for Meier-Gorlin syndrome 2

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_181741.4(ORC4):c.233A>G (p.Asn78Ser)	rs2307394	0.32301
NM_181741.4(ORC4):c.604T>G (p.Leu202Val)	rs73003466	0.00285
NM_181741.4(ORC4):c.287A>G (p.Gln96Arg)	rs138317624	0.00021
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys)	rs387906847	0.00004
NM_181741.4(ORC4):c.623C>G (p.Ser208Ter)	rs535159793	0.00001
NM_181741.4(ORC4):c.870_873dup (p.Ala292fs)	rs797044461	0.00001
NM_181741.4(ORC4):c.-17-11dup	rs2307399
NM_181741.4(ORC4):c.1226del (p.Thr409fs)	rs797045852
NM_181741.4(ORC4):c.1A>G (p.Met1Val)	rs1085307083
NM_181741.4(ORC4):c.763-9del	rs66919703
NM_181741.4(ORC4):c.866G>A (p.Arg289Gln)
NM_181741.4(ORC4):c.956A>G (p.His319Arg)	rs2105259429
NM_181742.3(ORC4):c.(-18+1_-17-1)_(762+1_773-1)del

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