ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 1 by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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NM_000260.3(MYO7A):c.1969C>T rs878853236
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270
NM_022124.6(CDH23):c.6050-9G>A rs367928692
NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370

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