List of variants reported as pathogenic for Meckel syndrome by Natera, Inc.

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)	rs762482919	0.00001
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	rs754279998
NM_017777.4(MKS1):c.1408-34_1408-6del	rs386834043
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)	rs386834044
NM_017777.4(MKS1):c.811del (p.His271fs)	rs1968969593

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