ClinVar Miner

List of variants in gene COL6A2 reported as likely pathogenic for not provided

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_001849.4(COL6A2):c.1360G>A (p.Gly454Ser) rs1035908319 0.00005
NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501 0.00004
NM_001849.4(COL6A2):c.2627G>A (p.Arg876His) rs1012567148 0.00004
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443 0.00003
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883 0.00001
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser) rs778364096 0.00001
NM_001849.4(COL6A2):c.2539_2540dup (p.Gln847fs) rs1413628703 0.00001
GRCh37/hg19 21q22.3(chr21:47533922-47535967)x1
GRCh37/hg19 21q22.3(chr21:47535923-47536591)x1
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs) rs886043164
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.4(COL6A2):c.1055G>A (p.Gly352Asp) rs2123632697
NM_001849.4(COL6A2):c.1063G>T (p.Gly355Cys) rs794727061
NM_001849.4(COL6A2):c.1117-35_1118dup rs1555873698
NM_001849.4(COL6A2):c.1135G>A (p.Gly379Arg) rs2078513383
NM_001849.4(COL6A2):c.115+2_115+8del rs1407260029
NM_001849.4(COL6A2):c.1458+1G>A rs886044526
NM_001849.4(COL6A2):c.1521+1G>A rs2123646873
NM_001849.4(COL6A2):c.1572+1G>A rs1057520717
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1]) rs773493556
NM_001849.4(COL6A2):c.1770+1del rs886044215
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn) rs786205642
NM_001849.4(COL6A2):c.2038_2039delinsA (p.Arg680fs) rs1064795685
NM_001849.4(COL6A2):c.2133C>G (p.Tyr711Ter) rs531816975
NM_001849.4(COL6A2):c.2206_2208delinsCA (p.Asp736fs)
NM_001849.4(COL6A2):c.2218_2236delinsCCTCGGGT (p.Asp740fs)
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.4(COL6A2):c.2593_2608dup (p.Asp870fs) rs1555877258
NM_001849.4(COL6A2):c.2646del (p.Phe882fs) rs1555877282
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.4(COL6A2):c.3058T>C (p.Ter1020Gln) rs886044576
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp) rs397515333
NM_001849.4(COL6A2):c.838G>A (p.Gly280Ser) rs886043323
NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg) rs886043323
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.4(COL6A2):c.855+1G>C rs1057517988
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu) rs727502827
NM_001849.4(COL6A2):c.857G>T (p.Gly286Val) rs727502827
NM_001849.4(COL6A2):c.866G>A (p.Gly289Asp) rs886043554
NM_001849.4(COL6A2):c.866G>T (p.Gly289Val) rs886043554
NM_001849.4(COL6A2):c.893G>C (p.Gly298Ala) rs1487638242
NM_001849.4(COL6A2):c.893G>T (p.Gly298Val) rs1487638242
NM_001849.4(COL6A2):c.8_21dup (p.Val8fs)
NM_001849.4(COL6A2):c.920G>T (p.Gly307Val) rs886042541
NM_001849.4(COL6A2):c.94G>T (p.Glu32Ter) rs547648292
NM_001849.4(COL6A2):c.955-1G>A rs886044265

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