List of variants reported as likely pathogenic for autosomal recessive osteopetrosis

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

Total variants: 140

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HGVS	dbSNP	gnomAD frequency
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)	rs137853150	0.00007
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu)	rs137853151	0.00006
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn)	rs369264588	0.00004
NM_000067.3(CA2):c.472A>G (p.Lys158Glu)	rs145667849	0.00003
NM_031471.6(FERMT3):c.1312-2A>C	rs760261349	0.00003
NM_006019.4(TCIRG1):c.117+1G>A	rs377303800	0.00002
NM_006019.4(TCIRG1):c.1555-2A>C	rs758977199	0.00002
NM_001287.6(CLCN7):c.1681C>T (p.Arg561Trp)	rs2038701489	0.00001
NM_001287.6(CLCN7):c.739-18G>A	rs371893553	0.00001
NM_006019.4(TCIRG1):c.-5+1G>T	rs917505107	0.00001
NM_006019.4(TCIRG1):c.1021-1G>T	rs1590807544	0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)	rs777785526	0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)	rs200851583	0.00001
NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter)	rs1590817956	0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)	rs1338631330	0.00001
NM_006019.4(TCIRG1):c.787C>T (p.Gln263Ter)	rs1003722483	0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)	rs749361897	0.00001
NM_013322.3(SNX10):c.151C>T (p.Arg51Ter)	rs1353879401	0.00001
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter)	rs121918297	0.00001
NM_000067.3(CA2):c.275A>C (p.Gln92Pro)	rs1304160279
NM_000067.3(CA2):c.579C>G (p.Tyr193Ter)	rs1203921376
NM_000067.3(CA2):c.681del (p.Lys227fs)	rs779869368
NM_000211.5(ITGB2):c.120del (p.Gly42fs)
NM_000211.5(ITGB2):c.393T>A (p.Tyr131Ter)
NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys)	rs2142378398
NM_001287.6(CLCN7):c.1125C>G (p.Ile375Met)	rs1410701535
NM_001287.6(CLCN7):c.1304C>T (p.Ser435Leu)
NM_001287.6(CLCN7):c.1448-2A>G
NM_001287.6(CLCN7):c.1638del (p.Lys546fs)	rs2142368980
NM_001287.6(CLCN7):c.1682G>A (p.Arg561Gln)	rs757788894
NM_001287.6(CLCN7):c.1714del (p.Glu572fs)
NM_001287.6(CLCN7):c.2332G>T (p.Val778Phe)	rs1172932679
NM_001287.6(CLCN7):c.839G>A (p.Arg280His)	rs1163577336
NM_003701.4(TNFSF11):c.667C>T (p.Arg223Ter)	rs267603829
NM_003839.4(TNFRSF11A):c.147A>C (p.Lys49Asn)	rs2145289462
NM_003839.4(TNFRSF11A):c.328dup (p.Arg110fs)
NM_003839.4(TNFRSF11A):c.380G>A (p.Cys127Tyr)	rs2145309285
NM_003839.4(TNFRSF11A):c.443A>T (p.Asp148Val)
NM_006019.4(TCIRG1):c.1019C>A (p.Ser340Ter)
NM_006019.4(TCIRG1):c.1020+1G>T
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter)	rs1159666762
NM_006019.4(TCIRG1):c.1080_1081del (p.Leu361fs)
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs)	rs1269558164
NM_006019.4(TCIRG1):c.1128del (p.Asp376fs)
NM_006019.4(TCIRG1):c.1158_1159del (p.Asn387fs)
NM_006019.4(TCIRG1):c.117+4A>C	rs751881962
NM_006019.4(TCIRG1):c.117+4A>T	rs751881962
NM_006019.4(TCIRG1):c.117+5G>A	rs2134430922
NM_006019.4(TCIRG1):c.1211del (p.Phe404fs)
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg)	rs137853150
NM_006019.4(TCIRG1):c.1305+2T>C	rs1554997818
NM_006019.4(TCIRG1):c.1306-1G>A	rs1554997884
NM_006019.4(TCIRG1):c.1306-2A>T	rs1855570841
NM_006019.4(TCIRG1):c.1323_1324del (p.Phe441fs)
NM_006019.4(TCIRG1):c.1346_1351del (p.Leu449_Gly451delinsArg)	rs2134455141
NM_006019.4(TCIRG1):c.1378del (p.Ile460fs)
NM_006019.4(TCIRG1):c.1385dup (p.Asn462fs)	rs1554997997
NM_006019.4(TCIRG1):c.1387G>T (p.Glu463Ter)
NM_006019.4(TCIRG1):c.1419del (p.Ser474fs)
NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs)	rs1554998061
NM_006019.4(TCIRG1):c.1459del (p.Trp487fs)	rs2134455711
NM_006019.4(TCIRG1):c.1460G>A (p.Trp487Ter)
NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter)
NM_006019.4(TCIRG1):c.1554+1G>A
NM_006019.4(TCIRG1):c.1554+1G>T	rs1439348400
NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter)	rs1057517365
NM_006019.4(TCIRG1):c.1567del (p.Ala523fs)
NM_006019.4(TCIRG1):c.1664_1667dup (p.His557fs)
NM_006019.4(TCIRG1):c.1673+2T>C
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)	rs1855655612
NM_006019.4(TCIRG1):c.16del (p.Arg6fs)
NM_006019.4(TCIRG1):c.1722del (p.Thr575fs)
NM_006019.4(TCIRG1):c.1782T>A (p.Cys594Ter)
NM_006019.4(TCIRG1):c.1812del (p.Ser605fs)
NM_006019.4(TCIRG1):c.1884del (p.Gln629fs)
NM_006019.4(TCIRG1):c.1887+1G>A
NM_006019.4(TCIRG1):c.1887+1G>C	rs1554999205
NM_006019.4(TCIRG1):c.1888-1G>T	rs2134462513
NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs)	rs1554999516
NM_006019.4(TCIRG1):c.1891del (p.Val631fs)	rs1300297240
NM_006019.4(TCIRG1):c.196+1G>T	rs2134432498
NM_006019.4(TCIRG1):c.1967del (p.Leu656fs)
NM_006019.4(TCIRG1):c.1978del (p.Arg660fs)	rs2134462969
NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter)	rs1554995009
NM_006019.4(TCIRG1):c.2088dup (p.Gly697fs)
NM_006019.4(TCIRG1):c.2146C>T (p.Gln716Ter)
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del)	rs780311417
NM_006019.4(TCIRG1):c.2196del (p.Ser733fs)
NM_006019.4(TCIRG1):c.2321del (p.Val774fs)
NM_006019.4(TCIRG1):c.2324C>G (p.Pro775Arg)
NM_006019.4(TCIRG1):c.2329_2387dup (p.Ala796_Phe797insLeuProProLeuProTer)
NM_006019.4(TCIRG1):c.2377G>C (p.Gly793Arg)
NM_006019.4(TCIRG1):c.2414+1G>T
NM_006019.4(TCIRG1):c.2415-1G>C	rs1590819770
NM_006019.4(TCIRG1):c.2415-2A>G	rs1555000376
NM_006019.4(TCIRG1):c.242del (p.Pro81fs)	rs1208311085
NM_006019.4(TCIRG1):c.2450dup (p.Tyr818fs)	rs1590819834
NM_006019.4(TCIRG1):c.245del (p.Pro82fs)
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs)	rs886048594
NM_006019.4(TCIRG1):c.304del (p.Glu102fs)
NM_006019.4(TCIRG1):c.361C>T (p.Gln121Ter)
NM_006019.4(TCIRG1):c.376C>T (p.Gln126Ter)	rs903939170
NM_006019.4(TCIRG1):c.390del (p.Val131fs)
NM_006019.4(TCIRG1):c.418-1G>C
NM_006019.4(TCIRG1):c.418-21A>G	rs1855249165
NM_006019.4(TCIRG1):c.446C>G (p.Ser149Ter)
NM_006019.4(TCIRG1):c.455_457delinsGG (p.Thr152fs)
NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter)	rs1554995330
NM_006019.4(TCIRG1):c.479_480delinsT (p.Gly160fs)	rs1554995350
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs)	rs1554995341
NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter)	rs1385741705
NM_006019.4(TCIRG1):c.503+1G>A	rs1554995381
NM_006019.4(TCIRG1):c.503+5G>A
NM_006019.4(TCIRG1):c.507_513del (p.Phe169fs)
NM_006019.4(TCIRG1):c.523G>T (p.Glu175Ter)	rs2134437954
NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs)	rs1554995522
NM_006019.4(TCIRG1):c.630+1G>T	rs1554995582
NM_006019.4(TCIRG1):c.674del (p.Gly225fs)	rs1590804397
NM_006019.4(TCIRG1):c.690_706dup (p.Thr236fs)	rs1554995706
NM_006019.4(TCIRG1):c.702del (p.Ile235fs)
NM_006019.4(TCIRG1):c.713+1G>C	rs774308815
NM_006019.4(TCIRG1):c.713+1G>T	rs774308815
NM_006019.4(TCIRG1):c.723C>A (p.Cys241Ter)
NM_006019.4(TCIRG1):c.745C>T (p.Gln249Ter)
NM_006019.4(TCIRG1):c.751_752insGTATGGGG (p.Glu251fs)
NM_006019.4(TCIRG1):c.766del (p.Ala256fs)
NM_006019.4(TCIRG1):c.772C>T (p.Gln258Ter)
NM_006019.4(TCIRG1):c.807+1G>A
NM_006019.4(TCIRG1):c.807+1G>T	rs1458295257
NM_006019.4(TCIRG1):c.808-2A>C
NM_006019.4(TCIRG1):c.824_825del (p.Glu275fs)	rs1182235762
NM_006019.4(TCIRG1):c.862_866delinsG (p.Leu288fs)	rs1855343916
NM_006019.4(TCIRG1):c.898A>T (p.Lys300Ter)
NM_006019.4(TCIRG1):c.907dup (p.Tyr303fs)	rs1855347940
NM_006019.4(TCIRG1):c.968G>A (p.Trp323Ter)
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs)	rs1565156743
NM_013322.3(SNX10):c.302del (p.Phe101fs)
NM_031471.6(FERMT3):c.1671-4_1671del
NM_031471.6(FERMT3):c.684-1G>A
NM_031471.6(FERMT3):c.786+1G>T

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