ClinVar Miner

List of variants studied for Klippel-Feil syndrome 1, autosomal dominant by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro) rs63751220 0.00090
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427 0.00014
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) rs121909353 0.00003
NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn) rs747899927 0.00003
NM_001001557.4(GDF6):c.416C>T (p.Ser139Leu) rs1812463539 0.00001
NM_001001557.4(GDF6):c.460A>G (p.Met154Val) rs766667262

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