List of variants in gene PKHD1 reported as uncertain significance for PKHD1-related condition

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: 98

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)	rs145886657	0.00101
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)	rs143616240	0.00100
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)	rs78518523	0.00076
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)	rs150838488	0.00057
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg)	rs112030234	0.00049
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys)	rs149553146	0.00033
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala)	rs142205860	0.00032
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys)	rs141349745	0.00025
NM_138694.4(PKHD1):c.11737C>T (p.Arg3913Cys)	rs151198392	0.00019
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr)	rs142536551	0.00016
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His)	rs200497761	0.00016
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys)	rs146745096	0.00016
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)	rs199900211	0.00015
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn)	rs199897497	0.00015
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)	rs138242579	0.00011
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg)	rs368351830	0.00010
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp)	rs372340268	0.00010
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala)	rs562503637	0.00009
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg)	rs369932370	0.00009
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn)	rs373255125	0.00008
NM_138694.4(PKHD1):c.11318G>T (p.Arg3773Ile)	rs200114268	0.00006
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp)	rs371830478	0.00006
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val)	rs144106341	0.00006
NM_138694.4(PKHD1):c.161A>G (p.Asn54Ser)	rs374566843	0.00005
NM_138694.4(PKHD1):c.1772C>G (p.Pro591Arg)	rs201824369	0.00005
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser)	rs149293970	0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)	rs200511261	0.00005
NM_138694.4(PKHD1):c.1420C>A (p.His474Asn)	rs760766190	0.00004
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp)	rs557361225	0.00004
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met)	rs564240823	0.00004
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys)	rs368974211	0.00004
NM_138694.4(PKHD1):c.4558G>A (p.Val1520Met)	rs201858937	0.00004
NM_138694.4(PKHD1):c.6626T>C (p.Leu2209Ser)	rs757627773	0.00004
NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr)	rs747072396	0.00003
NM_138694.4(PKHD1):c.1218G>T (p.Glu406Asp)	rs748017071	0.00002
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile)	rs190315828	0.00002
NM_138694.4(PKHD1):c.3953A>T (p.His1318Leu)	rs200733734	0.00002
NM_138694.4(PKHD1):c.1187G>A (p.Ser396Asn)	rs772507975	0.00001
NM_138694.4(PKHD1):c.2275G>A (p.Ala759Thr)	rs550730673	0.00001
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys)	rs1413693039	0.00001
NM_138694.4(PKHD1):c.10316_10318del (p.Asp3439del)
NM_138694.4(PKHD1):c.10324A>G (p.Ser3442Gly)
NM_138694.4(PKHD1):c.10499A>G (p.Tyr3500Cys)
NM_138694.4(PKHD1):c.10681A>G (p.Ile3561Val)
NM_138694.4(PKHD1):c.10789T>C (p.Phe3597Leu)
NM_138694.4(PKHD1):c.1081C>T (p.Pro361Ser)
NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile)	rs147700643
NM_138694.4(PKHD1):c.10907A>T (p.Gln3636Leu)
NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val)
NM_138694.4(PKHD1):c.1100A>G (p.Gln367Arg)
NM_138694.4(PKHD1):c.11092C>A (p.Gln3698Lys)
NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val)	rs1299129734
NM_138694.4(PKHD1):c.11484T>G (p.Ile3828Met)
NM_138694.4(PKHD1):c.11540C>T (p.Ala3847Val)
NM_138694.4(PKHD1):c.11717A>G (p.His3906Arg)
NM_138694.4(PKHD1):c.11789T>A (p.Met3930Lys)	rs148691090
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
NM_138694.4(PKHD1):c.1701A>C (p.Glu567Asp)
NM_138694.4(PKHD1):c.1822G>T (p.Asp608Tyr)
NM_138694.4(PKHD1):c.1838T>G (p.Leu613Arg)
NM_138694.4(PKHD1):c.2005C>T (p.Arg669Cys)
NM_138694.4(PKHD1):c.2035G>A (p.Ala679Thr)
NM_138694.4(PKHD1):c.2200G>A (p.Val734Met)
NM_138694.4(PKHD1):c.220A>C (p.Ser74Arg)
NM_138694.4(PKHD1):c.2280-6C>G
NM_138694.4(PKHD1):c.2284G>A (p.Val762Met)
NM_138694.4(PKHD1):c.2432A>G (p.His811Arg)
NM_138694.4(PKHD1):c.2490T>A (p.Asn830Lys)
NM_138694.4(PKHD1):c.2722G>T (p.Val908Leu)	rs2128184282
NM_138694.4(PKHD1):c.2763C>G (p.Cys921Trp)
NM_138694.4(PKHD1):c.284C>T (p.Ser95Phe)
NM_138694.4(PKHD1):c.2927C>T (p.Ser976Leu)
NM_138694.4(PKHD1):c.3184G>A (p.Ala1062Thr)
NM_138694.4(PKHD1):c.3302C>T (p.Thr1101Ile)
NM_138694.4(PKHD1):c.3334A>G (p.Thr1112Ala)
NM_138694.4(PKHD1):c.3538G>A (p.Gly1180Arg)
NM_138694.4(PKHD1):c.3920A>T (p.Gln1307Leu)
NM_138694.4(PKHD1):c.4091A>G (p.Tyr1364Cys)
NM_138694.4(PKHD1):c.4465G>C (p.Asp1489His)
NM_138694.4(PKHD1):c.52+10A>G
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys)	rs201906247
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=)	rs398124489
NM_138694.4(PKHD1):c.5852G>C (p.Gly1951Ala)
NM_138694.4(PKHD1):c.6628G>C (p.Gly2210Arg)
NM_138694.4(PKHD1):c.6704C>A (p.Thr2235Lys)
NM_138694.4(PKHD1):c.6730C>G (p.Leu2244Val)
NM_138694.4(PKHD1):c.6809-9T>G
NM_138694.4(PKHD1):c.6814T>C (p.Cys2272Arg)
NM_138694.4(PKHD1):c.716T>C (p.Val239Ala)
NM_138694.4(PKHD1):c.8321A>C (p.Asp2774Ala)
NM_138694.4(PKHD1):c.832A>C (p.Thr278Pro)
NM_138694.4(PKHD1):c.8455C>T (p.Pro2819Ser)	rs886043763
NM_138694.4(PKHD1):c.8476C>T (p.Leu2826Phe)
NM_138694.4(PKHD1):c.8492G>A (p.Arg2831Lys)
NM_138694.4(PKHD1):c.8642G>A (p.Arg2881Lys)
NM_138694.4(PKHD1):c.8807A>G (p.His2936Arg)
NM_138694.4(PKHD1):c.9526A>G (p.Thr3176Ala)
NM_138694.4(PKHD1):c.9820A>G (p.Lys3274Glu)

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