List of variants reported as pathogenic for rickets by Mendelics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 92

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HGVS	dbSNP	gnomAD frequency
NM_000376.3(VDR):c.217C>T (p.Arg73Ter)	rs980041568	0.00004
NM_000376.3(VDR):c.218G>A (p.Arg73Gln)	rs121909791	0.00004
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)	rs202164519	0.00004
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys)	rs767480544	0.00001
NM_000444.6(PHEX):c.101del (p.Gly34fs)	rs1602241023
NM_000444.6(PHEX):c.1042A>T (p.Lys348Ter)	rs773436322
NM_000444.6(PHEX):c.1044del (p.Asp349fs)	rs1556026042
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly)	rs2147047501
NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter)	rs1602304005
NM_000444.6(PHEX):c.1173+1G>A	rs1064793227
NM_000444.6(PHEX):c.1174-1G>A	rs2147065556
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter)	rs1602307078
NM_000444.6(PHEX):c.1215del (p.Lys405fs)	rs1602307094
NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr)	rs1602307107
NM_000444.6(PHEX):c.1266del (p.Phe422fs)	rs2147065739
NM_000444.6(PHEX):c.1302+2T>A	rs2147065825
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter)	rs1341755128
NM_000444.6(PHEX):c.1324del (p.Val442fs)	rs1602324484
NM_000444.6(PHEX):c.1331G>A (p.Trp444Ter)	rs2147086395
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter)	rs1602324630
NM_000444.6(PHEX):c.1404+1G>C	rs2147086611
NM_000444.6(PHEX):c.1425del (p.Val476fs)	rs1602354302
NM_000444.6(PHEX):c.1482dup (p.Ile495fs)	rs2147118855
NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln)	rs1602363343
NM_000444.6(PHEX):c.1515_1532del (p.Asn505_Arg510del)	rs2147128134
NM_000444.6(PHEX):c.1586+2T>G	rs1057518377
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu)	rs886041363
NM_000444.6(PHEX):c.1646-2A>C	rs2147164011
NM_000444.6(PHEX):c.1646-2A>G	rs2147164011
NM_000444.6(PHEX):c.1646G>C (p.Arg549Pro)	rs1602395717
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro)	rs1556135242
NM_000444.6(PHEX):c.1718del (p.Ala573fs)	rs2147171155
NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter)	rs1602402229
NM_000444.6(PHEX):c.1768+1G>A	rs886041296
NM_000444.6(PHEX):c.1769-1G>A	rs1602405079
NM_000444.6(PHEX):c.1769-1G>C	rs1602405079
NM_000444.6(PHEX):c.1769-1G>T	rs1602405079
NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter)	rs1556138407
NM_000444.6(PHEX):c.1779T>A (p.Tyr593Ter)	rs1935269189
NM_000444.6(PHEX):c.1809dup (p.Ser604fs)	rs1602405176
NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter)	rs1602405239
NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter)	rs2147174526
NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer)	rs886041367
NM_000444.6(PHEX):c.1859_1862dup (p.Tyr622fs)	rs2147174569
NM_000444.6(PHEX):c.185dup (p.Ala63fs)	rs1602244836
NM_000444.6(PHEX):c.188-1G>C	rs1927567325
NM_000444.6(PHEX):c.1899+1G>A	rs1556138769
NM_000444.6(PHEX):c.1899+2T>G	rs1602405375
NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter)	rs1556151137
NM_000444.6(PHEX):c.200T>A (p.Leu67Ter)	rs2146987638
NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter)	rs886041372
NM_000444.6(PHEX):c.2071-1G>C	rs886041374
NM_000444.6(PHEX):c.2092_2096del (p.Pro698fs)	rs2147213985
NM_000444.6(PHEX):c.20_21del (p.Ser7fs)	rs1602240926
NM_000444.6(PHEX):c.2125del (p.Ala709fs)	rs1602439597
NM_000444.6(PHEX):c.2132G>T (p.Ser711Ile)	rs2147214114
NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg)	rs1602439611
NM_000444.6(PHEX):c.2139del (p.Gln714fs)	rs2147214136
NM_000444.6(PHEX):c.2147+2T>G	rs1602439662
NM_000444.6(PHEX):c.254G>T (p.Cys85Phe)	rs137853269
NM_000444.6(PHEX):c.305G>T (p.Gly102Val)	rs2146987874
NM_000444.6(PHEX):c.349+1G>A	rs193922459
NM_000444.6(PHEX):c.367_370del (p.Ile123fs)	rs1602273769
NM_000444.6(PHEX):c.37_38del (p.Lys13fs)	rs2146974254
NM_000444.6(PHEX):c.3G>A (p.Met1Ile)	rs1926865530
NM_000444.6(PHEX):c.421T>C (p.Ser141Pro)	rs2147019252
NM_000444.6(PHEX):c.436+4A>T	rs1057520344
NM_000444.6(PHEX):c.460A>T (p.Lys154Ter)	rs1929202828
NM_000444.6(PHEX):c.468del (p.Leu157fs)	rs2147020412
NM_000444.6(PHEX):c.535del (p.Val179fs)	rs2147020604
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter)	rs1602274883
NM_000444.6(PHEX):c.559del (p.Leu187fs)	rs1602274893
NM_000444.6(PHEX):c.582del (p.Arg195fs)	rs1602274929
NM_000444.6(PHEX):c.593del (p.Tyr198fs)	rs1602274950
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter)	rs771208171
NM_000444.6(PHEX):c.663G>A (p.Lys221=)	rs1929220357
NM_000444.6(PHEX):c.664-1G>T	rs886041529
NM_000444.6(PHEX):c.673del (p.Ala225fs)	rs2147035468
NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter)	rs2147035526
NM_000444.6(PHEX):c.732+3_732+6del	rs2147035589
NM_000444.6(PHEX):c.733-1G>C	rs886041223
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs)	rs1602240890
NM_000444.6(PHEX):c.849_849+2del	rs1602288211
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter)	rs1602290398
NM_000444.6(PHEX):c.933+2T>A	rs2147043777
NM_000444.6(PHEX):c.934-1G>T	rs1602292528
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del)	rs1556025968
NM_000444.6(PHEX):c.985del (p.His329fs)	rs1556025994
NM_000785.4(CYP27B1):c.252_262del (p.Thr85fs)	rs2140397692
NM_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu)	rs121918234
NM_001177316.2(SLC34A3):c.1217G>T (p.Gly406Val)	rs139408872
NM_017460.6(CYP3A4):c.902T>C (p.Ile301Thr)	rs1815413655

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