ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, periodontal type 2 by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001734.5(C1S):c.347A>G (p.Asn116Ser)	rs782390414	0.00003
NM_001734.5(C1S):c.727G>A (p.Gly243Arg)	rs1388331401	0.00001
NM_001734.5(C1S):c.1015T>G (p.Ser339Ala)	rs2539602435
NM_001734.5(C1S):c.2T>C (p.Met1Thr)	rs2539591419

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