ClinVar Miner

List of variants studied for North Carolina macular dystrophy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NC_000006.12:g.99593111G>C rs1554264613 0.00001
NM_021620.4(PRDM13):c.870C>T (p.Gly290=) rs1035992118 0.00001
NC_000006.12:g.99593030G>T rs1554264612
NC_000006.12:g.99593098A>C rs1583607800
NC_000006.12:g.99593164C>T rs1554264616
NC_000006.12:g.99598907A>C rs1008984719
NM_021620.4(PRDM13):c.1714G>A (p.Gly572Ser) rs755465077

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