List of variants in gene combination CEP72, TPPP reported as uncertain significance by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_007030.3(TPPP):c.413G>A (p.Arg138His)	rs371896286	0.00012
NM_007030.3(TPPP):c.395G>A (p.Ser132Asn)	rs150708894	0.00008
NM_007030.3(TPPP):c.400G>A (p.Glu134Lys)	rs775980060	0.00002
NM_007030.3(TPPP):c.466A>G (p.Lys156Glu)	rs1379712492	0.00002
NM_007030.3(TPPP):c.370G>A (p.Ala124Thr)	rs569786637	0.00001
NM_007030.3(TPPP):c.500C>T (p.Thr167Met)	rs757531846	0.00001
NM_007030.3(TPPP):c.592G>A (p.Glu198Lys)	rs748630491	0.00001
NM_007030.3(TPPP):c.320C>G (p.Ser107Cys)
NM_007030.3(TPPP):c.356C>G (p.Ala119Gly)	rs749246726
NM_007030.3(TPPP):c.443C>A (p.Ala148Glu)
NM_007030.3(TPPP):c.455C>T (p.Ser152Leu)
NM_007030.3(TPPP):c.563G>T (p.Gly188Val)	rs2478582880
NM_007030.3(TPPP):c.602A>G (p.Tyr201Cys)	rs2478582358
NM_007030.3(TPPP):c.610G>A (p.Gly204Ser)
NM_007030.3(TPPP):c.649G>A (p.Gly217Arg)	rs1345590978

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