List of variants studied for arterial calcification of infancy by OMIM

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)	rs28933977	0.02826
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)	rs72653706	0.00122
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp)	rs63750759	0.00069
NM_001171.6(ABCC6):c.2787+1G>T	rs72664209	0.00017
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr)	rs374270497	0.00010
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln)	rs67561842	0.00006
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)	rs72650700	0.00004
NM_001171.6(ABCC6):c.3736-1G>A	rs63750273	0.00001
NM_006208.3(ENPP1):c.1737G>C (p.Leu579Phe)	rs121918024	0.00001
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg)	rs777367269	0.00001
NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys)	rs387906859
NM_001171.6(ABCC6):c.450dup (p.Ala151fs)	rs387906860
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val)	rs121918025
NM_006208.3(ENPP1):c.1072_1082del (p.Gln358fs)	rs1554203715
NM_006208.3(ENPP1):c.1112A>T (p.Tyr371Phe)	rs121918026
NM_006208.3(ENPP1):c.1612G>C (p.Asp538His)	rs387906673
NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter)	rs121918023
NM_006208.3(ENPP1):c.556G>C (p.Gly186Arg)	rs1781877793
NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter)	rs267606784
NM_006208.3(ENPP1):c.795+1G>A	rs753851892
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val)	rs121908248
NM_006208.3(ENPP1):c.878_879del (p.Lys293fs)	rs1401810953

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