ClinVar Miner

List of variants studied for Usher syndrome type 1 by National Institute on Deafness and Communication Disorders,National Institutes of Health

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000260.4(MYO7A):c.133-3C>A
NM_000260.4(MYO7A):c.6355C>A (p.Gln2119Lys)
NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs)
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511
NM_022124.6(CDH23):c.2560C>T (p.Arg854Cys)
NM_022124.6(CDH23):c.271C>T (p.Gln91Ter)
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070
NM_022124.6(CDH23):c.3176A>T (p.Asp1059Val)
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile) rs200786014
NM_022124.6(CDH23):c.7872+1G>A
NM_022124.6(CDH23):c.9726del (p.Ser3243fs)
NM_033056.4(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_033056.4(PCDH15):c.92-528C>T

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