List of variants reported as likely pathogenic for calcinosis

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Total variants: 39

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HGVS	dbSNP	gnomAD frequency
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val)	rs148976897	0.00298
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter)	rs376963628	0.00029
NM_000341.4(SLC3A1):c.592del (p.Ala198fs)	rs778000327	0.00028
NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser)	rs201367228	0.00021
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg)	rs376131751	0.00018
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)	rs121908525	0.00006
NM_004482.4(GALNT3):c.1524+5G>A	rs375879489	0.00006
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)	rs121908523	0.00004
NM_003052.5(SLC34A1):c.644+1G>A	rs201304511	0.00004
NM_017654.4(SAMD9):c.2T>C (p.Met1Thr)	rs201122403	0.00004
NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile)	rs201331677	0.00003
NM_006580.4(CLDN16):c.217+5G>A	rs751959432	0.00002
NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)	rs145591298	0.00002
NM_000338.3(SLC12A1):c.769G>A (p.Gly257Ser)	rs896545456	0.00001
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro)	rs142772770	0.00001
NM_004795.4(KL):c.578A>G (p.His193Arg)	rs121908423	0.00001
NM_006580.4(CLDN16):c.437G>A (p.Arg146His)	rs772241737	0.00001
NM_012203.2(GRHPR):c.404+5G>A	rs757796926	0.00001
NM_017654.4(SAMD9):c.1171G>T (p.Gly391Ter)	rs1470207548	0.00001
NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro)	rs180177161
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)	rs180177227
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs)	rs779588655
NM_000338.3(SLC12A1):c.1424G>A (p.Cys475Tyr)	rs1555466999
NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)	rs121964880
NM_004482.4(GALNT3):c.1696C>T (p.Gln566Ter)
NM_004482.4(GALNT3):c.516-2A>G
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
NM_012203.2(GRHPR):c.103del (p.Asp35fs)	rs80356708
NM_017654.4(SAMD9):c.132del (p.Val45fs)	rs1554337424
NM_020638.3(FGF23):c.260G>A (p.Gly87Asp)	rs863224872
NM_020638.3(FGF23):c.385T>C (p.Ser129Pro)	rs1555096583

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