List of variants in gene combination COL4A3, MFF-DT reported as uncertain significance by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	rs190598500	0.00035
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)	rs200512461	0.00022
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)	rs184730597	0.00004
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr)	rs376550779	0.00003
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser)	rs761518401	0.00002
NM_000091.5(COL4A3):c.4615_4617dup (p.Arg1539dup)	rs773268719	0.00002
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg)	rs764451365	0.00002
NM_000091.5(COL4A3):c.2765G>T (p.Gly922Val)	rs920413118	0.00001
NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg)	rs1265432530	0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg)	rs1293137291	0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)	rs775373641	0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)	rs869025328	0.00001
NM_000091.5(COL4A3):c.1153TCA[1] (p.Ser386del)	rs1553755078
NM_000091.5(COL4A3):c.1459G>T (p.Gly487Cys)	rs745472969
NM_000091.5(COL4A3):c.145G>A (p.Gly49Arg)	rs1553749403
NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg)	rs1553757060
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)	rs1553762113
NM_000091.5(COL4A3):c.3189_3197dup (p.1064PGP[3])	rs1553762295
NM_000091.5(COL4A3):c.3662_3664del (p.Glu1221del)	rs756342074
NM_000091.5(COL4A3):c.4326_4328del (p.Thr1443del)	rs941454321
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln)	rs1553766363
NM_000091.5(COL4A3):c.4504T>C (p.Phe1502Leu)	rs1553766367
NM_000091.5(COL4A3):c.4798_4800del (p.Ser1600del)	rs775551399
NM_000091.5(COL4A3):c.4976dup (p.Ser1660fs)	rs1553766929
NM_000091.5(COL4A3):c.4977_4979dup (p.Ile1659_Ser1660insArg)	rs1553766932
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa)	rs765655100

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