ClinVar Miner

List of variants studied for Usher syndrome type 1 by Nilou-Genome Lab

Included ClinVar conditions (16):
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ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230
NM_001384140.1(PCDH15):c.4368-2209_4368-2204del rs397517465
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile) rs397517307
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) rs200124827
NM_033056.4(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436
NM_033056.4(PCDH15):c.131T>C (p.Val44Ala) rs750302536
NM_033056.4(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.4(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_033056.4(PCDH15):c.3018G>T (p.Val1006=) rs41307518
NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579

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