List of variants reported as likely pathogenic for Roifman syndrome

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001395891.1(CLASP1):c.196-567G>A	rs559979281	0.00038
NM_001395891.1(CLASP1):c.196-605C>T	rs188343279	0.00038
NM_001395891.1(CLASP1):c.196-591C>T	rs756026847	0.00013
NM_001395891.1(CLASP1):c.196-572C>T	rs991806266	0.00008
NM_001395891.1(CLASP1):c.196-602C>T	rs863225422	0.00005
NM_001395891.1(CLASP1):c.196-678C>T	rs544312701	0.00004
NM_001395891.1(CLASP1):c.196-562G>C
NM_001395891.1(CLASP1):c.196-570C>T	rs750325275
NM_001395891.1(CLASP1):c.196-600C>T	rs1032667950
NM_001395891.1(CLASP1):c.196-604C>T	rs181195449
NM_001395891.1(CLASP1):c.196-670T>A	rs982261295
NM_001395891.1(CLASP1):c.196-670T>C	rs982261295
NM_001395891.1(CLASP1):c.[196-571C>T];[196-670T>G]

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