ClinVar Miner

List of variants studied for cone-rod dystrophy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn) rs145265791 0.00005
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440 0.00002
NM_033100.4(CDHR1):c.862+4A>C rs1352559639 0.00001
GRCh38/hg38 14q11.2(chr14:21287774-21294830)x3
GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1
GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1
GRCh38/hg38 19q13.33(chr19:47834312-47840923)x1
GRCh38/hg38 Xp11.23(chrX:49222435-49226325)x0
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.2118del (p.Asn707fs)
NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter) rs766357803
NM_033100.4(CDHR1):c.10del (p.Cys4fs) rs2132782773
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter) rs1842216995
NM_172240.3(POC1B):c.317G>C (p.Arg106Pro) rs76216585
NM_177965.4(CFAP418):c.3G>A (p.Met1Ile) rs1249678588

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