ClinVar Miner

List of variants studied for acrofacial dysostosis, Weyers type by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07112
NM_147127.5(EVC2):c.-19T>C rs188508515 0.00949
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_153717.3(EVC):c.*1684A>G rs886059515 0.00001
NM_153717.3(EVC):c.2305-5C>G rs760071065 0.00001
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.-138GA[1] rs886059494
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826

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