ClinVar Miner

List of variants reported for Retinitis pigmentosa 59 by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_205861.3(DHDDS):c.757G>A (p.Val253Met) rs3816539 0.30121
NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln) rs149949619 0.00274
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu) rs141852437 0.00024
NM_205861.3(DHDDS):c.564T>C (p.Leu188=) rs371976956 0.00016
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_205861.3(DHDDS):c.990T>C (p.Thr330=) rs773902080 0.00014
NM_205861.3(DHDDS):c.387G>C (p.Leu129Phe) rs372256981 0.00012
NM_205861.3(DHDDS):c.874G>A (p.Ala292Thr) rs376234168 0.00007
NM_205861.3(DHDDS):c.480T>C (p.His160=) rs758260694 0.00006
NM_205861.3(DHDDS):c.476G>A (p.Arg159His) rs369429285 0.00005
NM_205861.3(DHDDS):c.65C>T (p.Ala22Val) rs372070142 0.00005
NM_205861.3(DHDDS):c.271G>C (p.Asp91His) rs773154382 0.00003
NM_205861.3(DHDDS):c.308G>A (p.Arg103His) rs115712846 0.00003
NM_205861.3(DHDDS):c.919G>C (p.Glu307Gln) rs762740714 0.00002
NM_205861.3(DHDDS):c.274G>A (p.Gly92Arg) rs766371067 0.00001
NM_205861.3(DHDDS):c.324-4T>G rs747118618 0.00001
NM_205861.3(DHDDS):c.339G>C (p.Lys113Asn) rs144046776 0.00001
NM_205861.3(DHDDS):c.366C>T (p.Gly122=) rs774001400 0.00001
NM_205861.3(DHDDS):c.491A>G (p.Asn164Ser) rs1429544868 0.00001
NM_205861.3(DHDDS):c.53A>G (p.Asn18Ser) rs922422245 0.00001
NM_205861.3(DHDDS):c.57C>T (p.Ile19=) rs981419090 0.00001
NM_205861.3(DHDDS):c.706A>T (p.Thr236Ser) rs763763588 0.00001
NM_205861.3(DHDDS):c.987C>T (p.Gly329=) rs1381026387 0.00001
NM_205861.3(DHDDS):c.299A>G (p.Lys100Arg) rs755746499
NM_205861.3(DHDDS):c.766-4del rs2075521285
NM_205861.3(DHDDS):c.848G>A (p.Arg283Gln) rs761750566
NM_205861.3(DHDDS):c.85A>G (p.Ile29Val) rs2075180906
NM_205861.3(DHDDS):c.893G>C (p.Arg298Pro) rs778103040
NM_205861.3(DHDDS):c.922G>A (p.Glu308Lys) rs2075524191
NM_205861.3(DHDDS):c.962G>A (p.Arg321Gln) rs562974074
NM_205861.3(DHDDS):c.980G>A (p.Arg327His) rs780269059

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