ClinVar Miner

List of variants in gene RHO reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000539.3(RHO):c.517G>A (p.Ala173Thr) rs139731264 0.00033
NM_000539.3(RHO):c.1019C>T (p.Thr340Met) rs148748781 0.00014
NM_000539.3(RHO):c.959C>A (p.Thr320Asn) rs138831590 0.00011
NM_000539.3(RHO):c.361+10G>A rs372128112 0.00010
NM_000539.3(RHO):c.505G>A (p.Ala169Thr) rs377687329 0.00006
NM_000539.3(RHO):c.178T>C (p.Tyr60His) rs771007146 0.00005
NM_000539.3(RHO):c.625G>A (p.Val209Met) rs567288669 0.00004
NM_000539.3(RHO):c.660T>G (p.Phe220Leu) rs141956356 0.00004
NM_000539.3(RHO):c.759G>T (p.Met253Ile) rs756658659 0.00004
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.124G>A (p.Ala42Thr) rs538820015 0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769 0.00001
NM_000539.3(RHO):c.520G>A (p.Gly174Ser) rs527236103 0.00001
NM_000539.3(RHO):c.530+5T>C rs759637818 0.00001
NM_000539.3(RHO):c.551A>G (p.Gln184Arg) rs1402468701 0.00001
NM_000539.3(RHO):c.933G>A (p.Lys311=) rs139566602 0.00001
NM_000539.3(RHO):c.1003del (p.Ala335fs)
NM_000539.3(RHO):c.1021_1028del (p.Glu341fs)
NM_000539.3(RHO):c.1030C>T (p.Gln344Ter) rs104893778
NM_000539.3(RHO):c.1030_1031del (p.Gln344fs)
NM_000539.3(RHO):c.1033G>A (p.Val345Met) rs104893795
NM_000539.3(RHO):c.1034T>G (p.Val345Gly)
NM_000539.3(RHO):c.1037C>A (p.Ala346Asp)
NM_000539.3(RHO):c.10A>C (p.Thr4Pro)
NM_000539.3(RHO):c.130A>G (p.Met44Val)
NM_000539.3(RHO):c.140T>G (p.Leu47Arg)
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) rs527236101
NM_000539.3(RHO):c.181G>T (p.Val61Phe)
NM_000539.3(RHO):c.182T>A (p.Val61Asp)
NM_000539.3(RHO):c.217_219del (p.Asn73del) rs398122525
NM_000539.3(RHO):c.219_220delinsATACATCCTGCTCAACC (p.Asn73_Tyr74delinsLysTyrIleLeuLeuAsnHis)
NM_000539.3(RHO):c.266G>A (p.Gly89Asp) rs104893772
NM_000539.3(RHO):c.269G>A (p.Gly90Asp) rs104893790
NM_000539.3(RHO):c.26T>G (p.Phe9Cys)
NM_000539.3(RHO):c.284T>C (p.Leu95Pro) rs2084758666
NM_000539.3(RHO):c.337G>A (p.Glu113Lys) rs2108749341
NM_000539.3(RHO):c.376T>G (p.Trp126Gly)
NM_000539.3(RHO):c.392T>C (p.Leu131Pro) rs1553781140
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.448G>A (p.Glu150Lys) rs104893791
NM_000539.3(RHO):c.44A>G (p.Asn15Ser) rs104893786
NM_000539.3(RHO):c.485T>A (p.Val162Asp)
NM_000539.3(RHO):c.491C>A (p.Ala164Glu) rs104893793
NM_000539.3(RHO):c.503C>T (p.Ala168Val)
NM_000539.3(RHO):c.511C>T (p.Pro171Ser) rs104893794
NM_000539.3(RHO):c.527C>G (p.Ser176Cys)
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) rs104893776
NM_000539.3(RHO):c.538C>G (p.Pro180Ala) rs1560046837
NM_000539.3(RHO):c.539C>G (p.Pro180Arg) rs2084785483
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.568G>A (p.Asp190Asn) rs104893779
NM_000539.3(RHO):c.568G>C (p.Asp190His) rs104893779
NM_000539.3(RHO):c.569A>T (p.Asp190Val)
NM_000539.3(RHO):c.595AAC[1] (p.Asn200del)
NM_000539.3(RHO):c.644C>T (p.Pro215Leu) rs2084786704
NM_000539.3(RHO):c.647T>A (p.Met216Lys) rs984572250
NM_000539.3(RHO):c.68C>T (p.Pro23Leu) rs104893768
NM_000539.3(RHO):c.706C>T (p.Gln236Ter)
NM_000539.3(RHO):c.713A>G (p.Gln238Arg)
NM_000539.3(RHO):c.71T>C (p.Phe24Ser)
NM_000539.3(RHO):c.755G>C (p.Arg252Pro) rs765438313
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000539.3(RHO):c.83A>G (p.Gln28Arg) rs1553780837
NM_000539.3(RHO):c.854C>G (p.Pro285Arg)
NM_000539.3(RHO):c.886A>C (p.Lys296Gln) rs29001653
NM_000539.3(RHO):c.888G>C (p.Lys296Asn) rs2084793009
NM_000539.3(RHO):c.937-1G>T
NM_000539.3(RHO):c.937-2A>T rs1578281565
NM_000539.3(RHO):c.968G>T (p.Cys323Phe)
NM_000539.3(RHO):c.999dup (p.Ser334fs)

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