ClinVar Miner

List of variants in gene RPGRIP1 reported as uncertain significance by Ambry Genetics

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.3505G>C (p.Glu1169Gln) rs201191634 0.00021
NM_020366.4(RPGRIP1):c.968T>C (p.Leu323Pro) rs199982906 0.00016
NM_020366.4(RPGRIP1):c.1772A>G (p.Lys591Arg) rs745899255 0.00008
NM_020366.4(RPGRIP1):c.3512T>C (p.Ile1171Thr) rs202036914 0.00006
NM_020366.4(RPGRIP1):c.1103A>G (p.Glu368Gly) rs774569329 0.00005
NM_020366.4(RPGRIP1):c.116G>A (p.Ser39Asn) rs376435824 0.00004
NM_020366.4(RPGRIP1):c.2663G>A (p.Arg888Gln) rs559905596 0.00004
NM_020366.4(RPGRIP1):c.3377C>T (p.Ala1126Val) rs760334377 0.00004
NM_020366.4(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691 0.00002
NM_020366.4(RPGRIP1):c.1326G>T (p.Lys442Asn) rs375450848 0.00001
NM_020366.4(RPGRIP1):c.1921G>A (p.Ala641Thr) rs753575515 0.00001
NM_020366.4(RPGRIP1):c.3814G>A (p.Val1272Ile) rs778860397 0.00001
NM_020366.4(RPGRIP1):c.1017G>C (p.Lys339Asn)
NM_020366.4(RPGRIP1):c.1171A>G (p.Ser391Gly)
NM_020366.4(RPGRIP1):c.127C>T (p.Arg43Trp) rs751975588
NM_020366.4(RPGRIP1):c.1430C>A (p.Thr477Asn) rs2139200427
NM_020366.4(RPGRIP1):c.1463T>A (p.Ile488Asn)
NM_020366.4(RPGRIP1):c.1551G>T (p.Leu517Phe)
NM_020366.4(RPGRIP1):c.155G>A (p.Arg52Gln) rs374171080
NM_020366.4(RPGRIP1):c.1597A>G (p.Asn533Asp)
NM_020366.4(RPGRIP1):c.1597A>T (p.Asn533Tyr)
NM_020366.4(RPGRIP1):c.1603T>G (p.Cys535Gly)
NM_020366.4(RPGRIP1):c.1711C>T (p.Arg571Cys)
NM_020366.4(RPGRIP1):c.1757C>T (p.Thr586Ile)
NM_020366.4(RPGRIP1):c.1877A>G (p.Asn626Ser) rs1247485541
NM_020366.4(RPGRIP1):c.1978G>T (p.Asp660Tyr) rs483352751
NM_020366.4(RPGRIP1):c.2047G>A (p.Val683Met)
NM_020366.4(RPGRIP1):c.2290G>A (p.Ala764Thr)
NM_020366.4(RPGRIP1):c.2441G>A (p.Arg814Gln)
NM_020366.4(RPGRIP1):c.2515A>G (p.Ile839Val) rs1231166099
NM_020366.4(RPGRIP1):c.2591A>G (p.Tyr864Cys)
NM_020366.4(RPGRIP1):c.2674C>G (p.Pro892Ala)
NM_020366.4(RPGRIP1):c.2765A>G (p.Gln922Arg)
NM_020366.4(RPGRIP1):c.2878G>A (p.Ala960Thr) rs35810926
NM_020366.4(RPGRIP1):c.2948A>T (p.Lys983Met)
NM_020366.4(RPGRIP1):c.3002G>T (p.Ser1001Ile)
NM_020366.4(RPGRIP1):c.308G>C (p.Arg103Pro)
NM_020366.4(RPGRIP1):c.3265G>C (p.Glu1089Gln)
NM_020366.4(RPGRIP1):c.3271A>C (p.Ser1091Arg) rs749295693
NM_020366.4(RPGRIP1):c.3448G>A (p.Asp1150Asn) rs144704092
NM_020366.4(RPGRIP1):c.3496A>G (p.Arg1166Gly)
NM_020366.4(RPGRIP1):c.3598C>A (p.Gln1200Lys)
NM_020366.4(RPGRIP1):c.3652G>A (p.Glu1218Lys)
NM_020366.4(RPGRIP1):c.3726T>G (p.Asp1242Glu)
NM_020366.4(RPGRIP1):c.3763G>A (p.Asp1255Asn)
NM_020366.4(RPGRIP1):c.410G>A (p.Arg137His)
NM_020366.4(RPGRIP1):c.553A>G (p.Asn185Asp)
NM_020366.4(RPGRIP1):c.569C>A (p.Ala190Asp)
NM_020366.4(RPGRIP1):c.808A>T (p.Ile270Phe)
NM_020366.4(RPGRIP1):c.895G>A (p.Glu299Lys) rs550626567
NM_020366.4(RPGRIP1):c.967C>T (p.Leu323Phe)

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