List of variants reported as likely pathogenic for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome by New York Genome Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_019066.5(MAGEL2):c.3559C>T (p.Arg1187Ter)	rs368965952	0.00001
NM_000165.5(GJA1):c.179G>C (p.Gly60Ala)
NM_001379200.1(TBX1):c.61G>A (p.Ala21Thr)
NM_003091.4(SNRPB):c.267+4dup
NM_006767.4(LZTR1):c.438dup (p.Lys147fs)	rs2147961992
NM_022455.4:c.928-10312_3797-10414del

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