List of variants in gene CCDC88A studied for PEHO-like syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001365480.1(CCDC88A):c.4744+85T>G	rs2576699	0.88940
NM_001365480.1(CCDC88A):c.4745-53C>T	rs1545121	0.78475
NM_001365480.1(CCDC88A):c.344-9C>T	rs3111411	0.55830
NM_001365480.1(CCDC88A):c.882+20G>A	rs2589090	0.47940
NM_001365480.1(CCDC88A):c.800+31T>A	rs1437394	0.40745
NM_001365480.1(CCDC88A):c.403-7A>G	rs41281505	0.00736
NM_001365480.1(CCDC88A):c.2603C>T (p.Thr868Ile)	rs145063885	0.00029
NM_001365480.1(CCDC88A):c.1340A>G (p.Gln447Arg)
NM_001365480.1(CCDC88A):c.2315del (p.Thr771_Leu772insTer)	rs879255649
NM_001365480.1(CCDC88A):c.3263G>C (p.Arg1088Thr)	rs1683281650
NM_001365480.1(CCDC88A):c.3580G>A (p.Glu1194Lys)	rs2104625835
NM_001365480.1(CCDC88A):c.432A>C (p.Arg144Ser)

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