List of variants reported as benign for Rhizomelic chondrodysplasia punctata by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000288.4(PEX7):c.*306T>G	rs1050803	0.51106
NM_000288.4(PEX7):c.130+48_130+53dup	rs11283064	0.50803
NM_000288.4(PEX7):c.-56C>T	rs73777751	0.11791
NM_000288.4(PEX7):c.-31G>A	rs115866467	0.02411
NM_003659.4(AGPS):c.207A>G (p.Ala69=)	rs34744592	0.02410
NM_003659.4(AGPS):c.261-5A>C	rs73029113	0.01813
NM_003659.4(AGPS):c.147C>T (p.Pro49=)	rs34442536	0.01033
NM_000288.4(PEX7):c.747+20_747+24del	rs199624608

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