ClinVar Miner

List of variants reported as uncertain significance for Floating-Harbor syndrome by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006662.3(SRCAP):c.316A>G (p.Ile106Val) rs777066101 0.00003
NM_006662.3(SRCAP):c.3721C>T (p.Leu1241Phe) rs202233790 0.00003
NM_006662.3(SRCAP):c.1429T>A (p.Cys477Ser) rs1596647170
NM_006662.3(SRCAP):c.196G>A (p.Gly66Ser) rs2052801296
NM_006662.3(SRCAP):c.2125C>T (p.Arg709Trp) rs760183638
NM_006662.3(SRCAP):c.2990T>C (p.Met997Thr)
NM_006662.3(SRCAP):c.4105A>T (p.Thr1369Ser) rs751529827
NM_006662.3(SRCAP):c.5470G>A (p.Val1824Met)
NM_006662.3(SRCAP):c.5813C>G (p.Pro1938Arg) rs2053089774
NM_006662.3(SRCAP):c.8303G>T (p.Arg2768Leu)
NM_006662.3(SRCAP):c.954G>T (p.Arg318Ser) rs2052869442

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