List of variants studied for chromosomal disorder by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=)	rs144206959	0.00097
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro)	rs1907131144
NM_001372044.2(SHANK3):c.3848del (p.Gly1283fs)	rs1569115756
NM_016628.5(WAC):c.1437+1G>A	rs1554791124
NM_030665.4(RAI1):c.3192_3195del (p.Glu1065fs)	rs1598091391
NM_030665.4(RAI1):c.4673dup (p.Arg1559fs)	rs1555566042

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