ClinVar Miner

List of variants studied for retinitis pigmentosa 1 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_006269.2(RP1):c.1458_1461dup (p.Glu488Ter) rs869320728 0.00001
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter) rs104894083
NM_006269.2(RP1):c.2285_2289del (p.Leu762fs) rs869320726
NM_006269.2(RP1):c.2287_2290del (p.Asn763fs) rs869320727

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