List of variants studied for autosomal recessive congenital ichthyosis 11

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_021978.4(ST14):c.1015+40A>G	rs610005	0.89653
NM_021978.4(ST14):c.1223+29G>A	rs858713	0.84758
NM_021978.4(ST14):c.1113+15G>A	rs597661	0.79383
NM_021978.4(ST14):c.875+23A>G	rs858704	0.78708
NM_021978.4(ST14):c.1215C>T (p.Asn405=)	rs476106	0.59526
NM_021978.4(ST14):c.1684+38C>T	rs11221995	0.41747
NM_021978.4(ST14):c.1315G>A (p.Gly439Ser)	rs1953368935
NM_021978.4(ST14):c.2034del (p.Leu678fs)	rs587777263
NM_021978.4(ST14):c.2269+1G>A	rs587777262
NM_021978.4(ST14):c.241+1G>A	rs2136211819
NM_021978.4(ST14):c.2479G>A (p.Gly827Arg)	rs137852931
NM_021978.4(ST14):c.3G>A (p.Met1Ile)	rs137852932

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