ClinVar Miner

List of variants in gene CLDN16 reported as likely pathogenic for calcinosis

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser) rs201367228 0.00021
NM_006580.4(CLDN16):c.217+5G>A rs751959432 0.00002
NM_006580.4(CLDN16):c.437G>A (p.Arg146His) rs772241737 0.00001
NM_006580.4(CLDN16):c.103G>A (p.Asp35Asn) rs2108658339
NM_006580.4(CLDN16):c.137T>C (p.Leu46Pro) rs2108670592
NM_006580.4(CLDN16):c.335_338dup (p.Lys113delinsAsnTer) rs1253995767
NM_006580.4(CLDN16):c.382G>C (p.Gly128Arg) rs1577430815
NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp) rs104893723
NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys) rs104893726
NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys) rs1577432872
NM_006580.4(CLDN16):c.494C>A (p.Ser165Tyr) rs104893728

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