ClinVar Miner

List of variants studied for Ochoa syndrome by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Total variants: 13
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HGVS dbSNP
HPSE2, EX3DEL
HPSE2, EX8-9DEL
NM_014813.2(LRIG2):c.1980_1981insJX891452.1:g.1_371 (p.Ile662Phefs)
NM_014813.3(LRIG2):c.1230del (p.Glu410fs) rs587776945
NM_014813.3(LRIG2):c.2088del (p.Ser697fs) rs587776947
NM_014813.3(LRIG2):c.2125C>T (p.Arg709Ter) rs587776946
NM_021828.4(HPSE2):c.1414C>T (p.Arg472Ter) rs267606864
NM_021828.4(HPSE2):c.1465_1466del (p.Asn489fs) rs397515338
NM_021828.4(HPSE2):c.1516C>T (p.Arg506Ter) rs267606866
NM_021828.4(HPSE2):c.1628A>T (p.Asn543Ile) rs397515452
NM_021828.4(HPSE2):c.235_236CT[3] (p.Leu81fs) rs1469962264
NM_021828.4(HPSE2):c.457C>T (p.Arg153Ter) rs267606865
NM_021828.4(HPSE2):c.57dup (p.Ala20fs) rs778121647

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