ClinVar Miner

List of variants studied for alobar holoprosencephaly by Muenke lab,National Institutes of Health

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Total variants: 6
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HGVS dbSNP
NM_007129.3:c.1148_1464del
NM_007129.4(ZIC2):c.1095_1096del (p.Cys365Terfs) rs1060499562
NM_007129.4(ZIC2):c.1097_1098delAG (p.Glu366Valfs) rs1060499564
NM_007129.4(ZIC2):c.1377_1406dup (p.Ala470_Val471insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) rs756225250
NM_007129.4(ZIC2):c.321del (p.Tyr108Thrfs) rs1555332212
NM_007129.4(ZIC2):c.793C>T (p.Gln265Ter) rs1060499563

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