ClinVar Miner

List of variants reported as likely benign for Usher syndrome type 1B by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753 0.00295
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_000260.4(MYO7A):c.1554+7C>T rs150114658 0.00090
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753 0.00072
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301 0.00042
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669 0.00032
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327 0.00029
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231 0.00016
NM_000260.4(MYO7A):c.6309C>T (p.Leu2103=) rs371789765 0.00016
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237 0.00011
NM_000260.4(MYO7A):c.639C>T (p.Phe213=) rs540197003 0.00011
NM_000260.4(MYO7A):c.2316A>G (p.Thr772=) rs369466539 0.00009
NM_000260.4(MYO7A):c.3987C>T (p.Tyr1329=) rs560284703 0.00009
NM_000260.4(MYO7A):c.4442-7G>A rs372023062 0.00009
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404 0.00009
NM_000260.4(MYO7A):c.3651C>T (p.His1217=) rs776731918 0.00008
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331 0.00008
NM_000260.4(MYO7A):c.894C>T (p.Tyr298=) rs554789699 0.00008
NM_000260.4(MYO7A):c.2601C>T (p.Leu867=) rs782554940 0.00005
NM_000260.4(MYO7A):c.444C>T (p.Asn148=) rs1253765162 0.00004
NM_000260.4(MYO7A):c.5466C>T (p.Thr1822=) rs548620787 0.00004
NM_000260.4(MYO7A):c.1053G>A (p.Ser351=) rs187679481 0.00003
NM_000260.4(MYO7A):c.4308C>T (p.Ile1436=) rs189972611 0.00002
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=) rs782163200 0.00001
NM_000260.4(MYO7A):c.2688G>A (p.Lys896=) rs782192254 0.00001
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) rs782531164 0.00001
NM_000260.4(MYO7A):c.345G>A (p.Ser115=) rs781980240 0.00001
NM_000260.4(MYO7A):c.3660G>A (p.Pro1220=) rs751497005 0.00001
NM_000260.4(MYO7A):c.4713G>A (p.Thr1571=) rs568414079 0.00001
NM_000260.4(MYO7A):c.5928T>G (p.Ala1976=) rs375155751 0.00001
NM_000260.4(MYO7A):c.6520T>C (p.Leu2174=) rs377251326 0.00001
NM_000260.4(MYO7A):c.759C>T (p.His253=) rs182220009 0.00001
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.3396C>T (p.Asp1132=) rs543234546
NM_000260.4(MYO7A):c.4568+10C>A rs367801483
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) rs111033287
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287

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