List of variants reported as uncertain significance for Usher syndrome by ClinGen Hearing Loss Variant Curation Expert Panel

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		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)	rs111033536	0.00037
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)	rs373147966	0.00026
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)	rs138398671	0.00026
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)	rs140559111	0.00024
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)	rs150982499	0.00023
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)	rs150230450	0.00023
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)	rs368341987	0.00021
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)	rs373276722	0.00016
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)	rs782396605	0.00009
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)	rs745693690	0.00009
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	rs539192853	0.00006
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)	rs534656527	0.00005
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln)	rs727502936	0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	rs750396156	0.00004
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)	rs121908353	0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)	rs397517984	0.00003
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)	rs369458838	0.00002
NM_022124.6(CDH23):c.1515-12G>A	rs369396703	0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)	rs1057519382	0.00002
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln)	rs782350886	0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)	rs397517349	0.00001
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu)	rs549796389	0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)	rs267598373	0.00001
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)	rs782063761
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly)	rs869312181
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)	rs727504551
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)	rs727505116
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)	rs550772689

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