List of variants reported as pathogenic for calcinosis by OMIM

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Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_004482.4(GALNT3):c.484C>T (p.Arg162Ter)	rs137853086	0.00021
NM_004482.4(GALNT3):c.516-2A>T	rs761396172	0.00013
NM_004482.4(GALNT3):c.1524+5G>A	rs375879489	0.00006
NM_004482.4(GALNT3):c.815C>A (p.Thr272Lys)	rs137853090	0.00003
NM_006580.4(CLDN16):c.243G>T (p.Leu81Phe)	rs104893729	0.00002
NM_004482.4(GALNT3):c.1774C>T (p.Gln592Ter)	rs137853087	0.00001
NM_004482.4(GALNT3):c.803dup (p.Thr269fs)	rs766750282	0.00001
NM_004795.4(KL):c.578A>G (p.His193Arg)	rs121908423	0.00001
NM_006580.4(CLDN16):c.206C>T (p.Ala69Val)	rs765256758	0.00001
NM_006580.4(CLDN16):c.224T>C (p.Leu75Pro)	rs104893731	0.00001
NM_006580.4(CLDN16):c.505G>A (p.Gly169Arg)	rs104893721	0.00001
NM_017654.4(SAMD9):c.1030C>T (p.Arg344Ter)	rs543007243	0.00001
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly)	rs104894342	0.00001
NM_004482.4(GALNT3):c.1076C>A (p.Thr359Lys)	rs137853091
NM_004482.4(GALNT3):c.1441C>T (p.Gln481Ter)	rs137853089
NM_004482.4(GALNT3):c.1524+1G>A	rs745655924
NM_004482.4(GALNT3):c.1626+1G>A	rs760830864
NM_004482.4(GALNT3):c.1720T>G (p.Cys574Gly)	rs267606841
NM_004482.4(GALNT3):c.677del (p.Ala226fs)	rs786205250
NM_004482.4(GALNT3):c.966T>G (p.Tyr322Ter)	rs137853088
NM_006580.4(CLDN16):c.140G>A (p.Trp47Ter)	rs104893732
NM_006580.4(CLDN16):c.235C>T (p.Arg79Ter)	rs104893720
NM_006580.4(CLDN16):c.242T>G (p.Leu81Trp)	rs104893730
NM_006580.4(CLDN16):c.290T>C (p.Leu97Pro)	rs104893725
NM_006580.4(CLDN16):c.2T>G (p.Met1Arg)	rs104893724
NM_006580.4(CLDN16):c.335_338dup (p.Lys113delinsAsnTer)	rs1253995767
NM_006580.4(CLDN16):c.361G>A (p.Gly121Arg)	rs104893722
NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp)	rs104893723
NM_006580.4(CLDN16):c.453G>T (p.Leu151Phe)
NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys)	rs104893726
NM_006580.4(CLDN16):c.488G>A (p.Gly163Asp)	rs104893727
NM_006580.4(CLDN16):c.494C>T (p.Ser165Phe)	rs104893728
NM_006580.4(CLDN16):c.613A>T (p.Lys205Ter)	rs387906880
NM_006580.4(CLDN16):c.621T>G (p.Tyr207Ter)	rs121908543
NM_017654.4(SAMD9):c.4483A>G (p.Lys1495Glu)	rs121918554
NM_020638.3(FGF23):c.287T>C (p.Met96Thr)	rs104894343
NM_020638.3(FGF23):c.386C>T (p.Ser129Phe)	rs104894344

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