ClinVar Miner

List of variants reported as benign for pili torti-developmental delay-neurological abnormalities syndrome

Included ClinVar conditions (1):

Pili torti-developmental delay-neurological abnormalities syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001098672.2(HEPHL1):c.751A>G (p.Asn251Asp)	rs1945783	0.92177
NM_001098672.2(HEPHL1):c.3046-35G>T	rs7925817	0.66043
NM_001098672.2(HEPHL1):c.1232+9C>G	rs1878799

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