ClinVar Miner

List of variants studied for Stickler syndrome, type 5

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met) rs141556170 0.00111
NM_001852.4(COL9A2):c.217C>T (p.Pro73Ser) rs375150574 0.00012
NM_001852.4(COL9A2):c.1237C>T (p.Pro413Ser) rs201985170 0.00009
NM_001852.4(COL9A2):c.682C>T (p.Pro228Ser) rs370064150 0.00005
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1506del (p.Asn503fs) rs1040081238
NM_001852.4(COL9A2):c.1753G>A (p.Val585Met) rs202153520
NM_001852.4(COL9A2):c.843_846+4del rs606231376

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