ClinVar Miner

List of variants reported as benign for Usher syndrome type 2C by Mendelics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) rs200058876
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) rs16869032

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