ClinVar Miner

List of variants reported as benign for PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_017934.7(PHIP):c.3180T>C (p.Asp1060=) rs7742431 0.48945
NM_017934.7(PHIP):c.2537+40G>A rs1890229 0.45507
NM_017934.7(PHIP):c.4155C>T (p.Val1385=) rs1984195 0.43860
NM_017934.7(PHIP):c.4228C>T (p.Leu1410=) rs2275290 0.33718
NM_017934.7(PHIP):c.2017+48G>A rs11752126 0.33018
NM_017934.7(PHIP):c.3278T>C (p.Leu1093Pro) rs9350797 0.26957
NM_017934.7(PHIP):c.2832A>G (p.Thr944=) rs12209235 0.05282
NM_017934.7(PHIP):c.1988T>G (p.Val663Gly) rs7747479
NM_017934.7(PHIP):c.4236T>A (p.Ala1412=) rs2275291

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