ClinVar Miner

List of variants reported as uncertain significance for retinitis pigmentosa 1

Included ClinVar conditions (1):
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn) rs149282954 0.00040
NM_006269.2(RP1):c.4783C>T (p.Arg1595Trp) rs555883522 0.00011
NM_006269.2(RP1):c.1726G>A (p.Val576Met) rs201008674 0.00007
NM_006269.2(RP1):c.1380G>C (p.Lys460Asn) rs143494598 0.00005
NM_006269.2(RP1):c.4735T>G (p.Leu1579Val) rs200860068 0.00005
NM_006269.2(RP1):c.3317T>C (p.Val1106Ala) rs1043235694 0.00004
NM_006269.2(RP1):c.2716G>A (p.Ala906Thr) rs201538234 0.00003
NM_006269.2(RP1):c.5002A>G (p.Arg1668Gly) rs375004458 0.00003
NM_006269.2(RP1):c.6225A>C (p.Arg2075Ser) rs756000109 0.00003
NM_006269.2(RP1):c.1516A>G (p.Ser506Gly) rs546625124 0.00002
NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn) rs753732597 0.00002
NM_006269.2(RP1):c.1661G>A (p.Ser554Asn) rs1252073669 0.00001
NM_006269.2(RP1):c.3340G>C (p.Gly1114Arg) rs1245809381 0.00001
NM_000350.3(ABCA4):c.4353-8T>G
NM_006269.2(RP1):c.1510T>C (p.Ser504Pro) rs530033470
NM_006269.2(RP1):c.2773C>A (p.Pro925Thr) rs1806061663
NM_006269.2(RP1):c.32T>A (p.Ile11Asn)
NM_006269.2(RP1):c.4535A>G (p.Lys1512Arg)
NM_006269.2(RP1):c.461G>A (p.Arg154Gln)
NM_006269.2(RP1):c.871G>T (p.Asp291Tyr)
NM_006269.2(RP1):c.961_963del (p.Lys321del) rs2129315881

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