List of variants reported as likely pathogenic for Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.700-1G>C	rs200963884	0.00005
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)	rs104893920
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs)	rs1554095374
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs)	rs786204675

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