List of variants reported as likely pathogenic for acromelic dysplasia by Invitae

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_014714.4(IFT140):c.1901+1G>T	rs375910993	0.00003
NM_014714.4(IFT140):c.2578-2A>G	rs2040685752	0.00001
NM_014714.4(IFT140):c.3874-1G>A	rs749563050	0.00001
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe)	rs1403669200	0.00001
NC_000016.9:g.(?_1573499)_(1576817_?)dup
NM_014112.5(TRPS1):c.1919_2096+2929del
NM_014112.5(TRPS1):c.2097-2A>C
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser)	rs1554617580
NM_014112.5(TRPS1):c.2798G>A (p.Cys933Tyr)	rs1812971156
NM_014112.5(TRPS1):c.2890A>G (p.Lys964Glu)	rs2129751692
NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr)	rs1586249260
NM_014112.5(TRPS1):c.967-1G>T	rs2130494791
NM_014714.4(IFT140):c.1009+1G>T
NM_014714.4(IFT140):c.1359+1G>A	rs2034739931
NM_014714.4(IFT140):c.146_147+2del	rs2142099151
NM_014714.4(IFT140):c.147+2T>G
NM_014714.4(IFT140):c.148-2A>G	rs775682083
NM_014714.4(IFT140):c.1525-2_1525-1del
NM_014714.4(IFT140):c.2200-1_2200delinsAG
NM_014714.4(IFT140):c.2400-1G>A
NM_014714.4(IFT140):c.2400-2A>G	rs1555478654
NM_014714.4(IFT140):c.2767_2768+2del	rs769075694
NM_014714.4(IFT140):c.2864+2T>C
NM_014714.4(IFT140):c.2997+1G>C
NM_014714.4(IFT140):c.2997+2T>C
NM_014714.4(IFT140):c.2998-2del	rs2141171226
NM_014714.4(IFT140):c.370-3_370-1delinsAA	rs2035236903
NM_014714.4(IFT140):c.811-2A>G
NM_014714.4(IFT140):c.903-1G>A	rs1567407044

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