ClinVar Miner

List of variants in gene MYO7A reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser) rs200840044 0.00034
NM_000260.4(MYO7A):c.758A>G (p.His253Arg) rs375200566 0.00027
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile) rs369539923 0.00023
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) rs368716988 0.00019
NM_000260.4(MYO7A):c.5087G>A (p.Arg1696Gln) rs368862510 0.00015
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn) rs372050452 0.00013
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237 0.00011
NM_000260.4(MYO7A):c.2081C>T (p.Pro694Leu) rs200057810 0.00011
NM_000260.4(MYO7A):c.4694C>T (p.Thr1565Met) rs764915160 0.00011
NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr) rs374576916 0.00010
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) rs373080197 0.00009
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.4055C>T (p.Thr1352Met) rs754971234 0.00004
NM_000260.4(MYO7A):c.4696A>T (p.Thr1566Ser) rs552367391 0.00004
NM_000260.4(MYO7A):c.5300C>T (p.Ser1767Leu) rs757896867 0.00004
NM_000260.4(MYO7A):c.6181C>T (p.Arg2061Trp) rs780940577 0.00004
NM_000260.4(MYO7A):c.6426T>A (p.Asp2142Glu) rs374575441 0.00004
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr) rs782726270 0.00003
NM_000260.4(MYO7A):c.4222C>G (p.Arg1408Gly) rs377391891 0.00003
NM_000260.4(MYO7A):c.4772G>A (p.Arg1591His) rs771059248 0.00003
NM_000260.4(MYO7A):c.4842C>A (p.Asn1614Lys) rs749146420 0.00003
NM_000260.4(MYO7A):c.5900G>A (p.Arg1967Gln) rs752881271 0.00003
NM_000260.4(MYO7A):c.6418C>G (p.Leu2140Val) rs774125413 0.00003
NM_000260.4(MYO7A):c.2371C>T (p.Arg791Cys) rs782165016 0.00002
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln) rs1052032 0.00002
NM_000260.4(MYO7A):c.3836C>T (p.Thr1279Met) rs766245260 0.00002
NM_000260.4(MYO7A):c.5195G>A (p.Arg1732His) rs760544219 0.00002
NM_000260.4(MYO7A):c.6547G>A (p.Glu2183Lys) rs373761833 0.00002
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284 0.00002
NM_000260.4(MYO7A):c.1792G>A (p.Ala598Thr) rs566111152 0.00001
NM_000260.4(MYO7A):c.2420A>C (p.His807Pro) rs782585520 0.00001
NM_000260.4(MYO7A):c.4237G>A (p.Val1413Met) rs774086083 0.00001
NM_000260.4(MYO7A):c.5122C>T (p.Arg1708Cys) rs529974676 0.00001
NM_000260.4(MYO7A):c.5138C>T (p.Thr1713Met) rs751716334 0.00001
NM_000260.4(MYO7A):c.5528T>G (p.Leu1843Arg) rs397516319 0.00001
NM_000260.4(MYO7A):c.5930G>A (p.Arg1977Gln) rs762420918 0.00001
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met) rs769205075 0.00001
NM_000260.4(MYO7A):c.1568C>G (p.Thr523Ser)
NM_000260.4(MYO7A):c.1619C>T (p.Pro540Leu)
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.1634A>G (p.His545Arg)
NM_000260.4(MYO7A):c.205G>A (p.Asp69Asn)
NM_000260.4(MYO7A):c.2098G>C (p.Asp700His) rs782740550
NM_000260.4(MYO7A):c.2113T>G (p.Cys705Gly)
NM_000260.4(MYO7A):c.2237A>C (p.Asp746Ala)
NM_000260.4(MYO7A):c.2248C>T (p.Leu750Phe) rs1224881006
NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp) rs778880077
NM_000260.4(MYO7A):c.2444A>G (p.Gln815Arg)
NM_000260.4(MYO7A):c.2455C>G (p.Gln819Glu)
NM_000260.4(MYO7A):c.2534C>T (p.Ala845Val)
NM_000260.4(MYO7A):c.2584G>A (p.Glu862Lys)
NM_000260.4(MYO7A):c.269G>A (p.Arg90Gln)
NM_000260.4(MYO7A):c.2725G>A (p.Ala909Thr)
NM_000260.4(MYO7A):c.2732G>A (p.Arg911Gln)
NM_000260.4(MYO7A):c.2795C>A (p.Ala932Asp)
NM_000260.4(MYO7A):c.2801A>G (p.His934Arg)
NM_000260.4(MYO7A):c.3059G>A (p.Arg1020Gln)
NM_000260.4(MYO7A):c.316A>C (p.Asn106His)
NM_000260.4(MYO7A):c.3213G>T (p.Met1071Ile)
NM_000260.4(MYO7A):c.3512T>C (p.Ile1171Thr)
NM_000260.4(MYO7A):c.3625G>A (p.Val1209Ile)
NM_000260.4(MYO7A):c.3625G>C (p.Val1209Leu)
NM_000260.4(MYO7A):c.3651C>A (p.His1217Gln)
NM_000260.4(MYO7A):c.3653G>C (p.Gly1218Ala)
NM_000260.4(MYO7A):c.395C>G (p.Pro132Arg)
NM_000260.4(MYO7A):c.4382A>G (p.Tyr1461Cys)
NM_000260.4(MYO7A):c.443A>G (p.Asn148Ser) rs79407758
NM_000260.4(MYO7A):c.4631G>C (p.Gly1544Ala)
NM_000260.4(MYO7A):c.4688C>T (p.Ala1563Val)
NM_000260.4(MYO7A):c.4692A>C (p.Lys1564Asn)
NM_000260.4(MYO7A):c.4700C>T (p.Ala1567Val)
NM_000260.4(MYO7A):c.4712C>T (p.Thr1571Met)
NM_000260.4(MYO7A):c.4756A>G (p.Asn1586Asp)
NM_000260.4(MYO7A):c.5015C>G (p.Thr1672Ser)
NM_000260.4(MYO7A):c.5216G>T (p.Arg1739Leu)
NM_000260.4(MYO7A):c.5339A>C (p.Tyr1780Ser) rs1555104196
NM_000260.4(MYO7A):c.5605G>A (p.Asp1869Asn)
NM_000260.4(MYO7A):c.5880C>A (p.Asp1960Glu)
NM_000260.4(MYO7A):c.5933C>A (p.Pro1978His)
NM_000260.4(MYO7A):c.5951T>G (p.Val1984Gly)
NM_000260.4(MYO7A):c.6094G>C (p.Glu2032Gln)
NM_000260.4(MYO7A):c.6182G>A (p.Arg2061Gln)
NM_000260.4(MYO7A):c.6265G>A (p.Ala2089Thr)
NM_000260.4(MYO7A):c.6282G>T (p.Glu2094Asp)
NM_000260.4(MYO7A):c.6314T>A (p.Phe2105Tyr)
NM_000260.4(MYO7A):c.64G>A (p.Val22Met) rs376701580
NM_000260.4(MYO7A):c.94G>A (p.Asp32Asn)
NM_000260.4(MYO7A):c.981C>G (p.His327Gln)

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