List of variants studied for chromosomal disorder by Undiagnosed Diseases Network, NIH

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	rs104894619	0.00378
NC_000005.10:g.126508361_126769360del
NC_000005.10:g.88846693_89051376delinsG
NM_006940.6(SOX5):c.224_225del (p.Gln75fs)
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter)	rs1564421528
NM_018328.4:c.-925+35305_-557+13791del
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)	rs770374710
NM_030665.4(RAI1):c.2472dup (p.Leu825fs)	rs1555565492
Single allele

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