ClinVar Miner

List of variants reported as benign for acrocephalopolysyndactyly by Natera, Inc.

Included ClinVar conditions (13):

Acrocephalosyndactyly
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Neoplasm of stomach; Bent bone dysplasia syndrome 1
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer; LADD syndrome 1
Acrocephalosyndactyly type I; Pfeiffer syndrome; Crouzon syndrome
Carpenter syndrome
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis
Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome
MEGF8-related Carpenter syndrome
Pfeiffer syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 3
RAB23-related Carpenter syndrome

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Minimum conflict level: Report conflict between different conditions
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_016277.5(RAB23):c.619G>A (p.Gly207Ser)	rs1040461	0.11850
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)	rs45479896	0.00589
NM_016277.5(RAB23):c.218C>T (p.Ala73Val)	rs556931606	0.00001

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