ClinVar Miner

List of variants studied for Wolfram syndrome 2

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001008388.5(CISD2):c.104-9C>A rs190212874 0.00067
NM_001008388.5(CISD2):c.240G>A (p.Pro80=) rs375529885 0.00029
NM_001008388.5(CISD2):c.319-20T>C rs933913005 0.00007
NM_001008388.5(CISD2):c.83C>T (p.Thr28Ile) rs759654427 0.00002
NM_001008388.5(CISD2):c.103+6C>A rs1271190440 0.00001
NM_001008388.5(CISD2):c.239C>T (p.Pro80Leu) rs868634687 0.00001
NC_000004.11:g.(103790345_103806372)_(103813965_?)del
NM_001008388.4(CISD2):c.(104_304)-84_318+724del
NM_001008388.5(CISD2):c.103+1G>A rs1578307302
NM_001008388.5(CISD2):c.109G>C (p.Glu37Gln) rs63749888
NM_001008388.5(CISD2):c.3G>A (p.Met1Ile)
NM_001008388.5(CISD2):c.60G>C (p.Arg20=) rs564095499

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