ClinVar Miner

List of variants reported as likely benign for Usher syndrome type 1 by Genome-Nilou Lab

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.624+64C>T rs7087735 0.34986
NM_022124.6(CDH23):c.1987-123G>A rs1227087 0.26320
NM_000260.4(MYO7A):c.6354+35G>A rs3819170 0.25401
NM_022124.6(CDH23):c.4846-79G>A rs41281328 0.13922
NM_022124.6(CDH23):c.3431-205A>C rs12240855 0.12869
NM_022124.6(CDH23):c.3431-133T>C rs12263420 0.12860
NM_000260.4(MYO7A):c.4441+89T>C rs11237115 0.04804
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338 0.00677
NM_022124.6(CDH23):c.8980-14C>A rs45522532 0.00642
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315 0.00539
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952 0.00289
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=) rs41307518 0.00149
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383 0.00048
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579 0.00014
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307 0.00012
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404 0.00009
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301 0.00009
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511 0.00003
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile) rs397517307 0.00002
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323 0.00002
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.945G>A (p.Pro315=) rs150450873
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465

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