ClinVar Miner

List of variants studied for Zimmermann-Laband syndrome 1 by Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro) rs730882177
NM_172362.3(KCNH1):c.1055C>A (p.Ser352Tyr) rs730882172
NM_172362.3(KCNH1):c.1123G>A (p.Gly375Arg) rs730882174
NM_172362.3(KCNH1):c.1135C>G (p.Leu379Val) rs730882176
NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu) rs730882173
NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val) rs727502819
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) rs730882175

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