ClinVar Miner

List of variants reported as likely benign for Anauxetic dysplasia by Invitae

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.129G>C rs74810894 0.00319
NR_003051.4(RMRP):n.55C>T rs193117694 0.00303
NR_003051.3(RMRP):n.-3C>T rs138660393 0.00185
NR_003051.3(RMRP):n.-6G>A rs191438045 0.00112
NR_003051.3(RMRP):n.-7A>G rs111909453 0.00057
NR_003051.4(RMRP):n.141A>G rs578091934 0.00042
NR_003051.4(RMRP):n.177G>A rs377566038 0.00039
NR_003051.4(RMRP):n.164C>T rs550203343 0.00022
NR_003051.4(RMRP):n.107_108insT rs775287390 0.00006
NC_000009.12:g.35658023_35658024delinsTT rs2131809702
NR_003051.3(RMRP):n.-10C>T rs572830134
NR_003051.3(RMRP):n.-23C>G rs188660894
NR_003051.3(RMRP):n.-96G>A rs915031372
NR_003051.3(RMRP):n.-9T>G rs12552387
NR_003051.4(RMRP):n.268G>C rs535022008
NR_003051.4(RMRP):n.269T>C rs572399988
NR_003051.4(RMRP):n.47T>A rs529328233

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